Familial 7q11.23 Duplication With Variable Phenotype

Salian, Smrithi and Girisha, KM (2015) Familial 7q11.23 Duplication With Variable Phenotype. American Journal of Medical Genetics. pp. 1-4.

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Abstract

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.

Item Type: Article
Uncontrolled Keywords: 7q11.23 duplication; Macrocephaly; Congenital heart disease; Dsygenesis and hypoplasia corpus callosum; Hypoplasia of left cerebellum
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 01 Jul 2015 04:33
Last Modified: 01 Jul 2015 04:33
URI: http://eprints.manipal.edu/id/eprint/143192

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