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Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion

✍ Scribed by Brémond-Gignac, Dominique; Crolla, John A; Copin, Henri; Guichet, Agnès; Bonneau, Dominique; Taine, Laurence; Lacombe, Didier; Baumann, Clarisse; Benzacken, Brigitte; Verloes, Alain

Book ID
110026163
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
159 KB
Volume
13
Category
Article
ISSN
1018-4813

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Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki–Shaffer syndrome
✍ Louise Chuang; Keiko Wakui; Whey-Chen Sue; Mei-Hsu Su; Lisa G. Shaffer; Pao-Lin 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB 👁 1 views

## Abstract We report a family with inherited Potocki–Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric marker chromosome formation. The marker chromosome contains the deleted material on 11p11.2 and is likely a ring. The patient inhe