Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association.
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.
Arrington
Cammon B
CB
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA.
Cowley
Brett C
BC
Nightingale
Daniel R
DR
Zhou
Holly
H
Brothman
Arthur R
AR
Viskochil
David H
DH
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002754:Choanal Atresia / Q000473:pathology; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003103:Coloboma / Q000473:pathology*; D003638:Deafness / Q000473:pathology; D004423:Ear / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D018895:Microsatellite Repeats; D009693:Nucleic Acid Hybridization / Q000379:methods; D013577:Syndrome