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[Cytogenetic and molecular genetic diagnostics of Rett syndrome in children].

作者信息

Vorsanova S G, Demidova I A, Ulas V Iu, Solov'ev I V, Kravets V S, Kazantseva L Z, Iurov Iu B

出版信息

Zh Nevrol Psikhiatr Im S S Korsakova. 1998;98(4):53-6.

PMID:9606901
Abstract

Rett syndrome in 32 children (31 girls and 1 boy) was diagnosed according to International association on Rett syndrome. The phenomenon of the presence of special type of late-replicating chromosome X (type C) was revealed. This phenomenon may be recommended as a diagnostic test for both preclinical periods of development of the disease and in atypical cases of Rett syndrome.

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