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Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association

✍ Scribed by Cammon B. Arrington; Brett C. Cowley; Daniel R. Nightingale; Holly Zhou; Arthur R. Brothman; David H. Viskochil

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 159 KB
Volume: 133A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30562

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✦ Synopsis

Abstract

Specific genetic loci responsible for CHARGE association are currently unknown. Herein, we describe a neonate with clinical manifestations consistent with CHARGE association who has a de novo interstitial deletion involving bands 8q11.2 to 8q13. Genetic mapping and genomic microarray technology have been used to more accurately define the breakpoints of this deletion. Within the deleted region, there are approximately 150 expressed genes, one or more of which may contribute to the manifestations of CHARGE association. © 2005 Wiley‐Liss, Inc.

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