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Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype

✍ Scribed by Berends, Maran J.W.; Hordijk, Roel; Scheffer, Hans; Oosterwijk, Jan C.; Halley, Dicky J.J.; Sorgedrager, Niels


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
17 KB
Volume
84
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990507)84:1<76::aid-ajmg16>3.0.co;2-f

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Delayed diagnosis in patients with Prade
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Prader-Willi syndrome (PWS) results from absence of the normally active paternally inherited genes on proximal 15q, due to del(15)(q11q13) or by maternal uniparental disomy (UPD) 15 in most cases. In addition to a higher frequency of hypopigmentation among deletion patients, minor phenotypic differe

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The existence of paternal uniparental disomy of chromosome 16 [upd( 16)pat] has previously been suspected but has not been proven. We report prenatal detection and follow-up of isodisomic upd(16)pat in a child with minimal defects but otherwise normal development. Our results indicate that isodisomi

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We report on a female infant with partial trisomy 9p (pter→p13) and partial trisomy 14q (pter→q22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic pattern

Unusual phenotype in partial trisomy 14
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An 8-year-old boy with partial trisomy 14q and phenotype distinct from previously reported cases is described. The mother carries a balanced 9;14 reciprocal translocation. The patient presented with minor facial anomalies, developmental delay, hyperphagia, and obesity. Imprinting of maternal chromos