Deletion of proximal 6q: a clinical report and review of the literature.
We report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 6[46,XY,del(6)(pter----q13::q15----qter)]. A characteristic facial appearance with facial asymmetry, vertebral anomalies, valgus heels with flat feet, and congenital heart defect seem to form part of a specific del 6q syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D006801:Humans; D008297:Male; D013577:Syndrome