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Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome

✍ Scribed by Flori, Elisabeth; Girodon, Emmanuelle; Samama, Brigitte; Becmeur, François; Viville, Brigitte; Girard-Lemaire, Françoise; Doray, Bérénice; Schluth, Caroline; Marcellin, Luc; Boehm, Nelly


Book ID
110026346
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
110 KB
Volume
13
Category
Article
ISSN
1018-4813

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## Abstract ## BACKGROUND Russell‐Silver syndrome (RSS) has been associated with maternal uniparental disomy (UPD) for chromosome 7 although the etiology of the syndrome is still unknown. Cases of RSS associated with maternal UPD7 have involved isodisomies, heterodisomies, and mixed isodisomy with