Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 11, Pages 2727-2730Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37226
Keywords
7q11; 23 duplication; macrocephaly; congenital heart disease; dsygenesis and hypoplasia corpus callosum; hypoplasia of left cerebellum
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Chromosomal microdeletions and microduplications are known to cause variable clinical features ranging from apparently normal phenotype to intellectual disability, multiple congenital anomalies, and/or other variable clinical features. 7q11.23 region deletion is the cause for Williams-Beuren syndrome and duplication of same region 7q11.23 causes distinguishable clinical phenotype. Familial inheritance is known for both microdeletion and microduplication of 7q11.23 region. Here, we report a patient of paternally inherited 7q11.23 microduplication with developmental delay, macrocephaly, and structural brain malformations. (c) 2015 Wiley Periodicals, Inc.
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