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Familial 7q11.23 duplication with variable phenotype
Author(s) -
Patil Siddaramappa J.,
Salian Smrithi,
Bhat Venkaraman,
Girisha Katta Mohan,
Shrivastava Yash,
VS Kiran,
Sapare Anilkumar
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37226
Subject(s) - phenotype , gene duplication , macrocephaly , intellectual disability , biology , genetics , chromosomal region , chromosome , gene
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. © 2015 Wiley Periodicals, Inc.