title: Chromosome subband 17p11.2 deletion: a minute deletion syndrome.
abstract: Interstitial deletion of the short arm of chromosome 17 was detected in three unrelated patients with mental retardation and multiple congenital malformations. These patients were identified at a single centre over a six month period suggesting that del(17) (p11.2p11.2) is not a rare constitutional chromosome rearrangement. Comparison of the phenotypic features in a total of 19 patients with del(17)(p11.2p11.2) shows a consistent clinical phenotype with moderate to severe mental retardation, microbrachycelphaly, prominent forehead, broad face, flat midface, prognathism, short, broad hands, and behavioural anomalies such as self-mutilation. The sex ratio is unremarkable, parental ages are normal, and survival is usually unimpaired. Chromosome resolution of at least 500 bands appears necessary to detect this deletion.
authors.affiliation: Genetics Center of Southwest Biomedical Research Institute, Scottsdale, Arizona 85251.
authors.forename: D
authors.initials: D
authors.lastname: Lockwood
authors.forename: F
authors.initials: F
authors.lastname: Hecht
authors.forename: C
authors.initials: C
authors.lastname: Dowman
authors.forename: B K
authors.initials: BK
authors.lastname: Hecht
authors.forename: T H
authors.initials: TH
authors.lastname: Rizkallah
authors.forename: T M
authors.initials: TM
authors.lastname: Goodwin
authors.forename: J
authors.initials: J
authors.lastname: Allanson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D008297:Male