title: Interstitial deletion of 17p11.2: case report and review.
abstract: A child with mental retardation and multiple congenital abnormalities, including brachycephaly, an unusual facies, brachydactyly, clinodactyly and bilateral talipes valgus, was found to have a small interstitial deletion of the short arm of chromosome 17. The clinical features and cytogenetic observations are compared with those in previously reported cases.
authors.affiliation: Regional Cytogenetics Unit, University Hospital of Wales, Cardiff.
authors.forename: M A
authors.initials: MA
authors.lastname: Hamill
authors.forename: S H
authors.initials: SH
authors.lastname: Roberts
authors.forename: M J
authors.initials: MJ
authors.lastname: Maguire
authors.forename: K M
authors.initials: KM
authors.lastname: Laurence
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome