title: Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired".
abstract: Since its first description almost a century ago schizophrenia with childhood onset, a rare yet devastating disorder, has been diagnosed in children as young as age 5. Recently, the velocardiofacial syndrome, whose underlying cause is interstitial deletions of 22q11.2, was found in 2 of 100 cases of schizophrenics with adult onset [Karayiorgou et al., Proc Natl Acad Sci USA 92: 7612-7616, 1995]. No study has documented the prevalence of velocardiofacial syndrome and the 22q11.2 deletion in a population of schizophrenics with childhood onset. Here we describe the result of such a study in a sample originally selected for a trial of atypical antipsychotic drugs. A separate group of patients was also included in the study; they can best be accounted for as a variant of childhood-onset schizophrenia (COS) and had been provisionally termed "multidimensionally impaired." Fluorescent in situ hybridization screening of 32 COS and 21 multidimensionally impaired patients revealed 1 COS patient with an interstitial deletion spanning at least 2.5 megabases.
authors.affiliation: Child Psychiatry Branch, National Institute of Mental Health, Bethesda, Maryland 20892-4405, USA. wlyan@helix.nih.gov
authors.forename: W
authors.initials: W
authors.lastname: Yan
authors.forename: L K
authors.initials: LK
authors.lastname: Jacobsen
authors.forename: D M
authors.initials: DM
authors.lastname: Krasnewich
authors.forename: X Y
authors.initials: XY
authors.lastname: Guan
authors.forename: M C
authors.initials: MC
authors.lastname: Lenane
authors.forename: S P
authors.initials: SP
authors.lastname: Paul
authors.forename: H N
authors.initials: HN
authors.lastname: Dalwadi
authors.forename: H
authors.initials: H
authors.lastname: Zhang
authors.forename: R T
authors.initials: RT
authors.lastname: Long
authors.forename: S
authors.initials: S
authors.lastname: Kumra
authors.forename: B M
authors.initials: BM
authors.lastname: Martin
authors.forename: P J
authors.initials: PJ
authors.lastname: Scambler
authors.forename: J M
authors.initials: JM
authors.lastname: Trent
authors.forename: E
authors.initials: E
authors.lastname: Sidransky
authors.forename: E I
authors.initials: EI
authors.lastname: Ginns
authors.forename: J L
authors.initials: JL
authors.lastname: Rapoport
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007361:Intelligence Tests; D008297:Male; D012559:Schizophrenia / Q000235:genetics*; D012934:Social Isolation