Co-Occurrence of a De Novo Williams and 22q11.2 microdeletion syndromes

Shukla, Anju and Girisha, KM (2015) Co-Occurrence of a De Novo Williams and 22q11.2 microdeletion syndromes. American Journal of Medical Genetics Part A, 167 (4). pp. 1-5.

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Abstract

We report on a child with de novo deletions involving the 7q11.23 (Williams syndrome) and 22q11.2 (Velocardiofacial/ DiGeorge syndrome) regions. We describe the clinical features of this rare double microdeletion syndrome reported here for the first time.

Item Type: Article
Uncontrolled Keywords: Williams syndrome; DiGeorge syndrome; chromosome 7q11.23 microdeletion syndrome; chromosome 22q11.2 deletion syndrome.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 28 Apr 2015 09:40
Last Modified: 28 Apr 2015 09:40
URI: http://eprints.manipal.edu/id/eprint/142558

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