Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and ?multidimensionally impaired?
| Autor: | Jeffrey M. Trent, Peter J. Scambler, Ellen Sidransky, Harnisha N. Dalwadi, Wen Liang Yan, Brian M. Martin, Marge Lenane, Xin Yuan Guan, Robert Long, Hongen Zhang, Sanjiv Kumra, Edward I. Ginns, Judith L. Rapoport, Leslie K. Jacobsen, Sharon P. Paul, Donna M. Krasnewich |
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| Rok vydání: | 1998 |
| Předmět: |
Psychosis
medicine.medical_specialty Pediatrics education.field_of_study Psychomotor retardation business.industry medicine.drug_class Population Atypical antipsychotic medicine.disease Endocrinology Schizophrenia DiGeorge syndrome Internal medicine Medicine medicine.symptom business education Chromosome 22 Childhood schizophrenia Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics. 81:41-43 |
| ISSN: | 1096-8628 0148-7299 |
| Popis: | 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. (C) 1998 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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