Article
Familial 7q11.23 duplication with variable phenotype.
American journal of medical genetics. Part A - 1 Nov 2015
Patil Siddaramappa J, Salian Smrithi, Bhat Venkaraman, Girisha Katta Mohan, Shrivastava Yash, Vs Kiran, Sapare Anilkumar
Abstract excerpt
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...
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