Chromosome 22q11.2 Interstitial deletions among childhood-onset schizophrenics and 'multidimensionally impaired'

Wen Liang Yan, Leslie K. Jacobsen, Donna M. Krasnewich, Xin Yuan Guan, Marge C. Lenane, Sharon P. Paul, Harnisha N. Dalwadi, Hongen Zhang, Robert T. Long, Sanjiv Kumra, Brian M. Martin, Peter J. Scambler, Jeffrey M. Trent, Ellen Sidransky, Edward I. Ginns, Judith L. Rapoport

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57 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)41-43
Number of pages3
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume81
Issue number1
DOIs
StatePublished - Feb 7 1998

Keywords

  • Childhood schizophrenia
  • Chromosome 22
  • DiGeorge syndrome
  • Mutation
  • Psychosis
  • Velocardiofacial syndrome

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    Yan, W. L., Jacobsen, L. K., Krasnewich, D. M., Guan, X. Y., Lenane, M. C., Paul, S. P., Dalwadi, H. N., Zhang, H., Long, R. T., Kumra, S., Martin, B. M., Scambler, P. J., Trent, J. M., Sidransky, E., Ginns, E. I., & Rapoport, J. L. (1998). Chromosome 22q11.2 Interstitial deletions among childhood-onset schizophrenics and 'multidimensionally impaired'. American Journal of Medical Genetics - Neuropsychiatric Genetics, 81(1), 41-43. https://doi.org/10.1002/(SICI)1096-8628(19980207)81:1<41::AID-AJMG8>3.0.CO;2-Q