PubMed:9674903 JSONTXT

{"project":"NCBI-Disease-Corpus-GPT5-withguidelines","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"Modifier"},{"id":"T7","span":{"begin":953,"end":956},"obj":"Modifier"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-GPT5-noguidelines","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1496,"end":1528},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-GPT5-guidelineprompt","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"Modifier"},{"id":"T7","span":{"begin":953,"end":956},"obj":"Modifier"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-Moderated1","denotations":[{"id":"T1","span":{"begin":0,"end":15},"obj":"DiseaseClass"},{"id":"T2","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":137,"end":164},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":166,"end":169},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":298,"end":316},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":856,"end":859},"obj":"Modifier"},{"id":"T11","span":{"begin":953,"end":956},"obj":"Modifier"},{"id":"T12","span":{"begin":1193,"end":1208},"obj":"DiseaseClass"},{"id":"T13","span":{"begin":1530,"end":1548},"obj":"DiseaseClass"},{"id":"T14","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T15","span":{"begin":1806,"end":1821},"obj":"DiseaseClass"},{"id":"T16","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":136},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":137,"end":265},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":266,"end":477},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":478,"end":706},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":707,"end":790},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":791,"end":1005},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":1006,"end":1192},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":1193,"end":1356},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1357,"end":1529},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":1530,"end":1714},"obj":"Sentence"},{"id":"TextSentencer_T11","span":{"begin":1715,"end":1830},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":136},"obj":"Sentence"},{"id":"T2","span":{"begin":137,"end":265},"obj":"Sentence"},{"id":"T3","span":{"begin":266,"end":477},"obj":"Sentence"},{"id":"T4","span":{"begin":478,"end":706},"obj":"Sentence"},{"id":"T5","span":{"begin":707,"end":790},"obj":"Sentence"},{"id":"T6","span":{"begin":791,"end":1005},"obj":"Sentence"},{"id":"T7","span":{"begin":1006,"end":1192},"obj":"Sentence"},{"id":"T8","span":{"begin":1193,"end":1356},"obj":"Sentence"},{"id":"T9","span":{"begin":1357,"end":1529},"obj":"Sentence"},{"id":"T10","span":{"begin":1530,"end":1714},"obj":"Sentence"},{"id":"T11","span":{"begin":1715,"end":1830},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":1106,"end":1111},"obj":"gene:6638"},{"id":"T1","span":{"begin":856,"end":859},"obj":"disease:C0032897"},{"id":"T2","span":{"begin":1106,"end":1111},"obj":"gene:6638"},{"id":"T3","span":{"begin":953,"end":956},"obj":"disease:C0032897"},{"id":"T4","span":{"begin":1342,"end":1348},"obj":"gene:2562"},{"id":"T5","span":{"begin":856,"end":859},"obj":"disease:C0032897"},{"id":"T6","span":{"begin":1342,"end":1348},"obj":"gene:2562"},{"id":"T7","span":{"begin":953,"end":956},"obj":"disease:C0032897"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"9674903-5#315#320#gene6638","span":{"begin":1106,"end":1111},"obj":"gene6638"},{"id":"9674903-5#65#68#diseaseC0032897","span":{"begin":856,"end":859},"obj":"diseaseC0032897"},{"id":"9674903-5#162#165#diseaseC0032897","span":{"begin":953,"end":956},"obj":"diseaseC0032897"},{"id":"9674903-5#918#921#diseaseC0032897","span":{"begin":1710,"end":1713},"obj":"diseaseC0032897"}],"relations":[{"id":"315#320#gene663865#68#diseaseC0032897","pred":"associated_with","subj":"9674903-5#315#320#gene6638","obj":"9674903-5#65#68#diseaseC0032897"},{"id":"315#320#gene6638162#165#diseaseC0032897","pred":"associated_with","subj":"9674903-5#315#320#gene6638","obj":"9674903-5#162#165#diseaseC0032897"},{"id":"315#320#gene6638918#921#diseaseC0032897","pred":"associated_with","subj":"9674903-5#315#320#gene6638","obj":"9674903-5#918#921#diseaseC0032897"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":629,"end":632},"obj":"http://purl.obolibrary.org/obo/UBERON_0001460"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":655,"end":658},"obj":"http://purl.obolibrary.org/obo/UBERON_0001460"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":699,"end":702},"obj":"http://purl.obolibrary.org/obo/UBERON_0001460"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":20,"end":41},"obj":"ORDO:739"},{"id":"AB1","span":{"begin":237,"end":258},"obj":"ORDO:739"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":629,"end":632},"obj":"http://purl.obolibrary.org/obo/UBERON_0001460"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":655,"end":658},"obj":"http://purl.obolibrary.org/obo/UBERON_0001460"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":699,"end":702},"obj":"http://purl.obolibrary.org/obo/UBERON_0001460"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":0,"end":15},"obj":"DiseaseClass:D024182"},{"id":"T2","span":{"begin":20,"end":41},"obj":"SpecificDisease:D011218"},{"id":"T3","span":{"begin":137,"end":188},"obj":"SpecificDisease:C538037"},{"id":"T4","span":{"begin":237,"end":258},"obj":"SpecificDisease:D011218"},{"id":"T5","span":{"begin":260,"end":263},"obj":"SpecificDisease:D011218"},{"id":"T6","span":{"begin":298,"end":316},"obj":"SpecificDisease:C538037"},{"id":"T7","span":{"begin":320,"end":323},"obj":"SpecificDisease:D011218"},{"id":"T8","span":{"begin":528,"end":531},"obj":"SpecificDisease:D011218"},{"id":"T9","span":{"begin":856,"end":859},"obj":"Modifier:D011218"},{"id":"T10","span":{"begin":953,"end":956},"obj":"Modifier:D011218"},{"id":"T11","span":{"begin":1193,"end":1208},"obj":"DiseaseClass:D024182"},{"id":"T12","span":{"begin":1530,"end":1548},"obj":"DiseaseClass:D024182"},{"id":"T13","span":{"begin":1710,"end":1713},"obj":"SpecificDisease:D011218"},{"id":"T14","span":{"begin":1806,"end":1821},"obj":"SpecificDisease:C538037"},{"id":"T15","span":{"begin":1826,"end":1829},"obj":"SpecificDisease:D011218"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Test","denotations":[{"id":"T54","span":{"begin":0,"end":15},"obj":"DiseaseClass"},{"id":"T55","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T56","span":{"begin":137,"end":188},"obj":"SpecificDisease"},{"id":"T57","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T58","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T59","span":{"begin":298,"end":316},"obj":"SpecificDisease"},{"id":"T60","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T61","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T62","span":{"begin":856,"end":859},"obj":"Modifier"},{"id":"T63","span":{"begin":953,"end":956},"obj":"Modifier"},{"id":"T64","span":{"begin":1193,"end":1208},"obj":"DiseaseClass"},{"id":"T65","span":{"begin":1530,"end":1548},"obj":"DiseaseClass"},{"id":"T66","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T67","span":{"begin":1806,"end":1821},"obj":"SpecificDisease"},{"id":"T68","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"attributes":[{"id":"A54","pred":"database_id","subj":"T54","obj":"D024182"},{"id":"A55","pred":"database_id","subj":"T55","obj":"D011218"},{"id":"A56","pred":"database_id","subj":"T56","obj":"C538037"},{"id":"A57","pred":"database_id","subj":"T57","obj":"D011218"},{"id":"A58","pred":"database_id","subj":"T58","obj":"D011218"},{"id":"A59","pred":"database_id","subj":"T59","obj":"C538037"},{"id":"A60","pred":"database_id","subj":"T60","obj":"D011218"},{"id":"A61","pred":"database_id","subj":"T61","obj":"D011218"},{"id":"A62","pred":"database_id","subj":"T62","obj":"D011218"},{"id":"A63","pred":"database_id","subj":"T63","obj":"D011218"},{"id":"A64","pred":"database_id","subj":"T64","obj":"D024182"},{"id":"A65","pred":"database_id","subj":"T65","obj":"D024182"},{"id":"A66","pred":"database_id","subj":"T66","obj":"D011218"},{"id":"A67","pred":"database_id","subj":"T67","obj":"C538037"},{"id":"A68","pred":"database_id","subj":"T68","obj":"D011218"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Test-Assistant-Knowledge","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Test-4o-NoGuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":264},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1496,"end":1514},"obj":"Modifier"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-o3-2","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"Modifier"},{"id":"T7","span":{"begin":953,"end":956},"obj":"Modifier"},{"id":"T8","span":{"begin":1496,"end":1528},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-high-o3-1","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-high-o3-2","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Test-4o-GuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-UpdatedGuideline","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-humanintheloop","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-rezarta1","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T54","span":{"begin":0,"end":15},"obj":"DiseaseClass"},{"id":"T55","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T56","span":{"begin":137,"end":188},"obj":"SpecificDisease"},{"id":"T57","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T58","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T59","span":{"begin":298,"end":316},"obj":"SpecificDisease"},{"id":"T60","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T61","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T62","span":{"begin":856,"end":859},"obj":"Modifier"},{"id":"T63","span":{"begin":953,"end":956},"obj":"Modifier"},{"id":"T64","span":{"begin":1193,"end":1208},"obj":"DiseaseClass"},{"id":"T65","span":{"begin":1530,"end":1548},"obj":"DiseaseClass"},{"id":"T66","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T67","span":{"begin":1806,"end":1821},"obj":"SpecificDisease"},{"id":"T68","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"attributes":[{"id":"A54","pred":"database_id","subj":"T54","obj":"D024182"},{"id":"A55","pred":"database_id","subj":"T55","obj":"D011218"},{"id":"A56","pred":"database_id","subj":"T56","obj":"C538037"},{"id":"A57","pred":"database_id","subj":"T57","obj":"D011218"},{"id":"A58","pred":"database_id","subj":"T58","obj":"D011218"},{"id":"A59","pred":"database_id","subj":"T59","obj":"C538037"},{"id":"A60","pred":"database_id","subj":"T60","obj":"D011218"},{"id":"A61","pred":"database_id","subj":"T61","obj":"D011218"},{"id":"A62","pred":"database_id","subj":"T62","obj":"D011218"},{"id":"A63","pred":"database_id","subj":"T63","obj":"D011218"},{"id":"A64","pred":"database_id","subj":"T64","obj":"D024182"},{"id":"A65","pred":"database_id","subj":"T65","obj":"D024182"},{"id":"A66","pred":"database_id","subj":"T66","obj":"D011218"},{"id":"A67","pred":"database_id","subj":"T67","obj":"C538037"},{"id":"A68","pred":"database_id","subj":"T68","obj":"D011218"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":264},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"123456","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":320,"end":323},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":953,"end":956},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}

{"project":"12345","denotations":[{"id":"T1","span":{"begin":20,"end":41},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":237,"end":258},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":260,"end":263},"obj":"Modifier"},{"id":"T4","span":{"begin":320,"end":323},"obj":"Modifier"},{"id":"T5","span":{"begin":528,"end":531},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":856,"end":859},"obj":"Modifier"},{"id":"T7","span":{"begin":953,"end":956},"obj":"Modifier"},{"id":"T8","span":{"begin":1710,"end":1713},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1826,"end":1829},"obj":"SpecificDisease"}],"text":"Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).\nMaternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS."}