Cytogenetic and molecular-genetic diagnostics of Rett syndrome in children

被引:0
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作者
Vorsanova, SG [1 ]
Demidova, IA
Ulas, VY
Solovyev, IV
Kravets, VS
Kazantseva, LZ
Yurov, YB
机构
[1] Moscow Pediat & Child Surg Res Inst, Moscow, Russia
[2] Russian Acad Med Sci, Mental Hlth Res Ctr, Moscow 109801, Russia
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R74 [神经病学与精神病学];
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摘要
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 period of development of the disease and in atypical cases of Rett syndrome.
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页码:53 / 56
页数:4
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