Document Detail

Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21.
MedLine Citation:
PMID:  11121174     Owner:  NLM     Status:  MEDLINE    
Childhood-onset schizophrenia (COS) is defined by the development of first psychotic symptoms by age 12. While recruiting patients with COS refractory to conventional treatments for a trial of atypical antipsychotic drugs, we discovered a unique case who has a familial t(1;7)(p22;q21) reciprocal translocation and onset of psychosis at age 9. The patient also has symptoms of autistic disorder, which are usually transient before the first psychotic episode among 40-50% of the childhood schizophrenics but has persisted in him even after the remission of psychosis. Cosegregating with the translocation, among the carriers in the family available for the study, are other significant psychopathologies, including alcohol/drug abuse, severe impulsivity, and paranoid personality and language delay. This case may provide a model for understanding the genetic basis of schizophrenia or autism. Here we report the progress toward characterization of genomic organization across the translocation breakpoint at 7q21. The polymorphic markers, D7S630/D7S492 and D7S2410/D7S646, immediately flanking the breakpoint, may be useful for further confirming the genetic linkage for schizophrenia or autism in this region. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:749-753, 2000. Published 2000 Wiley-Liss, Inc.
W L Yan; X Y Guan; E D Green; R Nicolson; T K Yap; J Zhang; L K Jacobsen; D M Krasnewich; S Kumra; M C Lenane; P Gochman; P J Damschroder-Williams; L E Esterling; R T Long; B M Martin; E Sidransky; J L Rapoport; E I Ginns
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  96     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2000-12-21     Completed Date:  2000-12-28     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  749-53     Citation Subset:  IM    
Child Psychiatry, National Institute of Mental Health, Bethesda, Maryland 20892-4405, USA.
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MeSH Terms
Autistic Disorder / genetics*,  pathology
Chromosome Breakage / genetics
Chromosomes, Bacterial
Chromosomes, Human, Pair 1 / genetics*
Chromosomes, Human, Pair 7 / genetics*
Contig Mapping
DNA / genetics
In Situ Hybridization, Fluorescence
Schizophrenia / genetics*,  pathology
Translocation, Genetic*
Reg. No./Substance:

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