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Identification of a 21q22 duplication in a Silver–Russell syndrome patient further narrows down the Down syndrome critical region

✍ Scribed by Thomas Eggermann; Nadine Schönherr; Sabrina Spengler; Susanne Jäger; Bernd Denecke; Gerhard Binder; Michael Baudis


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
129 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 👁 1 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