Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: Identification of a BAC contig spanning the translocation breakpoint at 7q21

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 tra nslocation and onset of psychosis at age 9, The patient also has symptoms o f 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 transloca tion, among the carriers in the family available for the study, are other s ignificant psychopathologies, including alcohol/drug abuse, severe impulsiv ity, and paranoid personality and language delay, This case may provide a m odel for understanding the genetic basis of schizophrenia or autism. Here w e report the progress toward characterization of genomic organization acros s the translocation breakpoint at 7q21, The polymorphic markers, D7S630/D7S 492 and D7S2410/D7S646, immediately flanking the breakpoint, may be useful for further confirming the genetic linkage for schizophrenia or autism in t his region. Published 2000 Wiley-Liss, Inc.(dagger).