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PubMed:10528860 JSONTXT 18 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-79 Sentence denotes Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.
T1 0-79 Sentence denotes Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.
TextSentencer_T2 80-162 Sentence denotes We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)).
T2 80-162 Sentence denotes We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)).
TextSentencer_T3 163-275 Sentence denotes At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS).
T3 163-275 Sentence denotes At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS).
TextSentencer_T4 276-386 Sentence denotes He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features.
T4 276-386 Sentence denotes He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features.
TextSentencer_T5 387-477 Sentence denotes The history further indicated intrauterine growth retardation at the end of the pregnancy.
T5 387-477 Sentence denotes The history further indicated intrauterine growth retardation at the end of the pregnancy.
TextSentencer_T6 478-534 Sentence denotes His mother was 44 years of age at the time of his birth.
T6 478-534 Sentence denotes His mother was 44 years of age at the time of his birth.
TextSentencer_T7 535-622 Sentence denotes After birth he showed hypotonia with poor sucking, for which gavage feeding was needed.
T7 535-622 Sentence denotes After birth he showed hypotonia with poor sucking, for which gavage feeding was needed.
TextSentencer_T8 623-653 Sentence denotes Motor development was delayed.
T8 623-653 Sentence denotes Motor development was delayed.
TextSentencer_T9 654-709 Sentence denotes After 1 year he became obese despite a normal appetite.
T9 654-709 Sentence denotes After 1 year he became obese despite a normal appetite.
TextSentencer_T10 710-818 Sentence denotes Recurrent middle ear infections, a high pain threshold, and a great skill with jigsaw puzzles were reported.
T10 710-818 Sentence denotes Recurrent middle ear infections, a high pain threshold, and a great skill with jigsaw puzzles were reported.
TextSentencer_T11 819-875 Sentence denotes There were no behavioural problems or sleep disturbance.
T11 819-875 Sentence denotes There were no behavioural problems or sleep disturbance.
TextSentencer_T12 876-916 Sentence denotes Chromosomal analysis was normal (46,XY).
T12 876-916 Sentence denotes Chromosomal analysis was normal (46,XY).
TextSentencer_T13 917-980 Sentence denotes DNA analysis for Prader-Willi syndrome showed no abnormalities.
T13 917-980 Sentence denotes DNA analysis for Prader-Willi syndrome showed no abnormalities.
TextSentencer_T14 981-1111 Sentence denotes Two years later he was re-examined because we thought his features fitted the PWS-like phenotype associated with maternal UPD(14).
T14 981-1111 Sentence denotes Two years later he was re-examined because we thought his features fitted the PWS-like phenotype associated with maternal UPD(14).
TextSentencer_T15 1112-1156 Sentence denotes At that time precocious puberty was evident.
T15 1112-1156 Sentence denotes At that time precocious puberty was evident.
TextSentencer_T16 1157-1217 Sentence denotes DNA analysis showed maternal heterodisomy for chromosome 14.
T16 1157-1217 Sentence denotes DNA analysis showed maternal heterodisomy for chromosome 14.
TextSentencer_T17 1218-1384 Sentence denotes In all the previously described 11 cases with maternal UPD(14), a Robertsonian translocation involving chromosome 14 was detected cytogenetically before DNA analysis.
T17 1218-1384 Sentence denotes In all the previously described 11 cases with maternal UPD(14), a Robertsonian translocation involving chromosome 14 was detected cytogenetically before DNA analysis.
TextSentencer_T18 1385-1470 Sentence denotes This is the first report of diagnosis of maternal UPD(14) based on clinical features.
T18 1385-1470 Sentence denotes This is the first report of diagnosis of maternal UPD(14) based on clinical features.
TextSentencer_T19 1471-1686 Sentence denotes This finding underlines the importance of DNA analysis for maternal UPD(14) in patients with a similar PWS-like phenotype even without previous identification of a Robertsonian translocation involving chromosome 14.
T19 1471-1686 Sentence denotes This finding underlines the importance of DNA analysis for maternal UPD(14) in patients with a similar PWS-like phenotype even without previous identification of a Robertsonian translocation involving chromosome 14.