PubMed:2016095 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":108},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":109,"end":266},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":267,"end":367},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":368,"end":505},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":506,"end":689},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":690,"end":819},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":108},"obj":"Sentence"},{"id":"T2","span":{"begin":109,"end":266},"obj":"Sentence"},{"id":"T3","span":{"begin":267,"end":367},"obj":"Sentence"},{"id":"T4","span":{"begin":368,"end":505},"obj":"Sentence"},{"id":"T5","span":{"begin":506,"end":689},"obj":"Sentence"},{"id":"T6","span":{"begin":690,"end":819},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.\nInterstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":86,"end":107},"obj":"ORDO:739"},{"id":"AB1","span":{"begin":238,"end":259},"obj":"ORDO:739"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.\nInterstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":86,"end":107},"obj":"SpecificDisease:D011218"},{"id":"T2","span":{"begin":238,"end":259},"obj":"SpecificDisease:D011218"},{"id":"T3","span":{"begin":261,"end":264},"obj":"SpecificDisease:D011218"},{"id":"T4","span":{"begin":290,"end":293},"obj":"SpecificDisease:D011218"},{"id":"T5","span":{"begin":440,"end":452},"obj":"Modifier:D011218"}],"text":"A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.\nInterstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T4549","span":{"begin":86,"end":107},"obj":"SpecificDisease"},{"id":"T4550","span":{"begin":238,"end":259},"obj":"SpecificDisease"},{"id":"T4551","span":{"begin":261,"end":264},"obj":"SpecificDisease"},{"id":"T4552","span":{"begin":290,"end":293},"obj":"SpecificDisease"},{"id":"T4553","span":{"begin":440,"end":452},"obj":"Modifier"}],"attributes":[{"id":"A4549","pred":"database_id","subj":"T4549","obj":"D011218"},{"id":"A4550","pred":"database_id","subj":"T4550","obj":"D011218"},{"id":"A4551","pred":"database_id","subj":"T4551","obj":"D011218"},{"id":"A4552","pred":"database_id","subj":"T4552","obj":"D011218"},{"id":"A4553","pred":"database_id","subj":"T4553","obj":"D011218"}],"text":"A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.\nInterstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T4549","span":{"begin":86,"end":107},"obj":"SpecificDisease"},{"id":"T4550","span":{"begin":238,"end":259},"obj":"SpecificDisease"},{"id":"T4551","span":{"begin":261,"end":264},"obj":"SpecificDisease"},{"id":"T4552","span":{"begin":290,"end":293},"obj":"SpecificDisease"},{"id":"T4553","span":{"begin":440,"end":452},"obj":"Modifier"}],"attributes":[{"id":"A4549","pred":"database_id","subj":"T4549","obj":"D011218"},{"id":"A4550","pred":"database_id","subj":"T4550","obj":"D011218"},{"id":"A4551","pred":"database_id","subj":"T4551","obj":"D011218"},{"id":"A4552","pred":"database_id","subj":"T4552","obj":"D011218"},{"id":"A4553","pred":"database_id","subj":"T4553","obj":"D011218"}],"text":"A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.\nInterstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":86,"end":107},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":238,"end":259},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":261,"end":264},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":290,"end":293},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":440,"end":468},"obj":"Modifier"},{"id":"T6","span":{"begin":470,"end":474},"obj":"Modifier"},{"id":"T7","span":{"begin":740,"end":744},"obj":"Modifier"}],"text":"A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.\nInterstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":86,"end":107},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":238,"end":259},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":261,"end":264},"obj":"Modifier"},{"id":"T4","span":{"begin":290,"end":293},"obj":"SpecificDisease"}],"text":"A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.\nInterstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":86,"end":107},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":238,"end":265},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":290,"end":293},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":440,"end":474},"obj":"Modifier"}],"text":"A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.\nInterstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":86,"end":107},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":238,"end":265},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":290,"end":293},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":740,"end":744},"obj":"SpecificDisease"}],"text":"A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.\nInterstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo."}