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Published on: February 21, 2015
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions
Benjamin Kamien1, M Cristina Digilio2, Antonio Novelli3
1Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia; The University of Newcastle, School of Biomedical Sciences and Pharmacy, Newcastle, New South Wales, Australia.
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.
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