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Interstitial deletion 8q11.2‐q13 with congenital anomalies of CHARGE association
Author(s) -
Arrington Cammon B.,
Cowley Brett C.,
Nightingale Daniel R.,
Zhou Holly,
Brothman Arthur R.,
Viskochil David H.
Publication year - 2005
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.30562
Subject(s) - breakpoint , genetics , charge syndrome , biology , gene , charge (physics) , microarray , genetic association , gene deletion , genotype , single nucleotide polymorphism , chromosomal translocation , gene expression , physics , quantum mechanics , mutant
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.