Familial 7q11.23 duplication with variable phenotype. (24th June 2015)

• Record Type: Journal Article
• Authors: Patil, Siddaramappa J.; Salian, Smrithi; Bhat, Venkaraman; Girisha, Katta Mohan; Shrivastava, Yash; VS, Kiran; Sapare, Anilkumar
• Is Part Of: American journal of medical genetics. Volume 167:Number 11(2015:Nov.)
• Page Start: 2727
• Page End: 2730
• Publication Date: 2015-06-24
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37226
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37226-sec-0001" sec-type="section"> <p>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.</p> </sec> </abstract>