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Microdeletion of 16p11.2 associated with endocardial fibroelastosis

โœ Scribed by Surasak Puvabanditsin; Michael S. Nagar; Meera Joshi; George Lambert; Eugene Garrow; Erik Brandsma


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

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## Abstract Using aCGH, we have identified a pericentromeric deletion, spanning about 8.2 Mb, within 16p11.2โ€“p12.2 in a patient with developmental delay (DD) and dysmorphic features. This deletion arose de novo and is flanked by segmental duplications. The proposita was the only child of healthy no