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Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf–Hirschhorn syndrome

✍ Scribed by Kosuke Izumi; Hironobu Okuno; Katsuhiro Maeyama; Seiji Sato; Toshiyuki Yamamoto; Chiharu Torii; Rika Kosaki; Takao Takahashi; Kenjiro Kosaki


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
166 KB
Volume
152A
Category
Article
ISSN
1552-4825

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✍ Sebastio, Gianfranco; Perone, Lucia; Guzzetta, Vito; Sebastio, Lucia; Vicari, La 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 2 views

We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and men