| Id |
Subject |
Object |
Predicate |
Lexical cue |
| TextSentencer_T1 |
0-136 |
Sentence |
denotes |
Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2). |
| T1 |
0-136 |
Sentence |
denotes |
Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2). |
| TextSentencer_T2 |
137-265 |
Sentence |
denotes |
Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). |
| T2 |
137-265 |
Sentence |
denotes |
Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). |
| TextSentencer_T3 |
266-477 |
Sentence |
denotes |
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. |
| T3 |
266-477 |
Sentence |
denotes |
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. |
| TextSentencer_T4 |
478-706 |
Sentence |
denotes |
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. |
| T4 |
478-706 |
Sentence |
denotes |
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. |
| TextSentencer_T5 |
707-790 |
Sentence |
denotes |
The t(3;15) was present in the balanced state in the patient's father and a sister. |
| T5 |
707-790 |
Sentence |
denotes |
The t(3;15) was present in the balanced state in the patient's father and a sister. |
| TextSentencer_T6 |
791-1005 |
Sentence |
denotes |
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. |
| T6 |
791-1005 |
Sentence |
denotes |
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. |
| TextSentencer_T7 |
1006-1192 |
Sentence |
denotes |
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. |
| T7 |
1006-1192 |
Sentence |
denotes |
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. |
| TextSentencer_T8 |
1193-1356 |
Sentence |
denotes |
Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. |
| T8 |
1193-1356 |
Sentence |
denotes |
Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. |
| TextSentencer_T9 |
1357-1529 |
Sentence |
denotes |
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. |
| T9 |
1357-1529 |
Sentence |
denotes |
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. |
| TextSentencer_T10 |
1530-1714 |
Sentence |
denotes |
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. |
| T10 |
1530-1714 |
Sentence |
denotes |
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. |
| TextSentencer_T11 |
1715-1830 |
Sentence |
denotes |
Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS. |
| T11 |
1715-1830 |
Sentence |
denotes |
Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS. |