Mosaic trisomy 15 and hemihypertrophy
✍ Scribed by Marion Gérard-Blanluet; Annie Elbez; Anne Bazin; Claude Danan; Alain Verloes; Jean-Claude Janaud
- Book ID
- 113987256
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 117 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0003-3995
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📜 SIMILAR VOLUMES
Maternal uniparental disomy 15 (UPD15), responsible for approximately 25 per cent of Prader-Willi syndrome cases, is usually caused by maternal meiosis I non-disjunction associated with advanced maternal age. These cases may initially be detected as mosaic trisomy 15 during routine prenatal diagnost
~ W e report on a boy with mosaic trisomy 15. The clinical manifestations are compared with those of the few cases reported up to now. A clinical syndrome is delineated consisting of a characteristic shape of the nose and other minor craniofacial anomalies, as well as typical deformities of the hand
We describe a liveborn infant with uniparental disomy (UPD) with trisomy 15 mosaicism. Third trimester amniocentesis yielded a 46W47,XX, + 15 karyotype. Symmetrical growth retardation, distinct craniofacies, congenital heart disease, severe hypotonia and minor skeletal anomalies were noted. The infa
A review of all prenatal and postnatal diagnoses of trisomy 16 and trisomy 16 mosaicism was carried out in the context of the current understanding of confined placental mosaicism and uniparental disomy (UPD). The prenatal detection of trisomy 16 cells is associated with a high probability of fetal