title: Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).
abstract: A 28 year old man with mental retardation and therapeutically controlled schizophrenia was found to have a de novo interstitial deletion in the long arm of a chromosome 9 (46,XY,del(9)(q32q34.1). Additional phenotypic abnormalities included short stature, a short webbed neck with a low posterior hairline, dysmorphic facies, a narrow palate with an inverted V soft palate, and tapered fingers with bilateral short fifth metacarpals. Interstitial deletion of chromosome 9 is a rare finding and we are aware of only one other case involving the q32q34.1 region.
authors.affiliation: Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire 03756.
authors.forename: J P
authors.initials: JP
authors.lastname: Park
authors.forename: J B
authors.initials: JB
authors.lastname: Moeschler
authors.forename: S Z
authors.initials: SZ
authors.lastname: Berg
authors.forename: D H
authors.initials: DH
authors.lastname: Wurster-Hill
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000648:ultrastructure*; D005149:Facial Expression; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012559:Schizophrenia / Q000235:genetics*