Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.
This report describes a male child with a history of poor feeding and swallowing problems, hypotonia, mild bilateral sensorineural hearing loss, cerebral cortical agenesis, cardiac defects, cyanotic episodes triggered by specific movement, dysmorphic features, and developmental delays. Analysis by CytoScan HD array identified a 12.1 Mb interstitial deletion of 7q22.1q31.1 (98,779,628-110,868,171). We present a comprehensive review of the literature surrounding intermediate 7q deletions that overlap with this child's deletion, and an analysis of candidate genes in the deleted region. © 2016 Wiley Periodicals, Inc.
Olivia L
OL
Katz
Ian D
ID
Krantz
Sarah E
SE
Noon
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D019066:Facies; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics
7q22.1q31.1; cardiac defect; developmental delay; dysmorphic features; intermediate 7q deletion; interstitial 7q deletion; structural brain abnormality