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
Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
β 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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We report on a female infant with partial trisomy 9p (pterβp13) and partial trisomy 14q (pterβq22) 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
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