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Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and ?multidimensionally impaired?

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

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 6 KB
Volume: 81
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980207)81:1<41::aid-ajmg8>3.0.co;2-q

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✦ Synopsis

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.

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