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

2005; Wiley; Volume: 133A; Issue: 3 Linguagem: Inglês

10.1002/ajmg.a.30562

1552-4833

Cammon B. Arrington, Brett C. Cowley, Daniel R. Nightingale, Holly Zhou, Arthur R. Brothman, David Viskochil,

Head and Neck Surgical Oncology

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.