title: Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases.
abstract: We describe a moderately retarded boy with a chromosome 18 deletion involving the regions q11.2q12.2. His phenotype is similar to that of other reported cases of proximal interstitial deletions involving 18q. We also provide follow-up information on the first 4 cases of proximal interstitial deletion of 18q from a family with a complex chromosome rearrangement originally reported in 1974.
authors.affiliation: Department of Pediatrics, University of Manitoba, Children's Hospital, Winnipeg, Canada.
authors.forename: A E
authors.initials: AE
authors.lastname: Chudley
authors.forename: S
authors.initials: S
authors.lastname: Kovnats
authors.forename: M
authors.initials: M
authors.lastname: Ray
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype