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Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

✍ Scribed by Valérie Bélien; Marion Gérard-Blanluet; Stéphane Serero; Nathalie Le Dû; Clarisse Baumann; Marie-Line Jacquemont; Céline Dupont; Kada Krabchi; Séverine Drunat; Annie Elbez; Jean-Claude Janaud; Brigitte Benzacken; Alain Verloes; Anne-Claude Tabet; Azzedine Aboura


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
140 KB
Volume
146A
Category
Article
ISSN
1552-4825

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## Abstract We report on a girl with mosaicism (65%) of a de novo supernumerary ring chromosome 7. The main clinical features were delayed psychomotor development, congenital heart defect, facial dysmorphisms, and long hands, fingers, feet and toes. Molecular cytogenetic analysis revealed that the