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Prenatal diagnosis of Prader–Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13

✍ Scribed by Chang, Chia-Wei; Hsu, Hui-Kuo; Kao, Chiu-Ching; Huang, Jyun-Yuan; Kuo, Pao-Lin


Book ID
121667033
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
477 KB
Volume
125
Category
Article
ISSN
0020-7292

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Deletion breakpoints associated with the
✍ Wendy P. Robinson; Roland Spiegel; Albert A. Schinzel 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 372 KB

Deletions of 15q11.2-q12 are associated with either the Prader-Willi (PWS) or Angelman (AS) syndromes. It has been suggested that excessive recombination in this region might explain the high frequency of such deletions, and the frequent involvement of chromosome 15 in translocations and nondisjunct