Large chromosomal deletions from 13q13.3 to 13q21.3 have previously been associated with overgrowth. We present two patients with deletions at 13q14.2q14.3 who have macrocephaly, tall stature relative to their parents, cardiac phenotypes, and intellectual disability. This report narrows the critical region for tall stature, macrocephaly, and possibly cardiac disease. Crown Copyright (C) 2015 Published by Elsevier Masson SAS. All rights reserved.
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions
Novelli, Antonio;
2015-01-01
Abstract
Large chromosomal deletions from 13q13.3 to 13q21.3 have previously been associated with overgrowth. We present two patients with deletions at 13q14.2q14.3 who have macrocephaly, tall stature relative to their parents, cardiac phenotypes, and intellectual disability. This report narrows the critical region for tall stature, macrocephaly, and possibly cardiac disease. Crown Copyright (C) 2015 Published by Elsevier Masson SAS. All rights reserved.File in questo prodotto:
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