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[儿童和青少年发育性发育异常的体征及遗传机制的功能]

[Signs of developmental dysplasia and function of the genetic apparatus of children and adolescents].

作者信息

Sitnikov V F, Khardikov A A, Morozov N N

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1988;88(3):35-9.

PMID:2968030
Abstract

Using scanning cytospectrophotometry and radiometry of beta-particles of 3H-thymidine incorporated into DNA the authors studied chromatin in interphase nuclei of lymphocytes in children and adolescents with Down's syndrome, childhood cerebral paralysis, and undifferentiated oligophrenia, as well as in healthy subjects. The findings obtained are compared with the results of cytogenetic examination of metaphase chromosomes and the number of stigmas of dysembryogenesis. Aberrations of metaphase chromosomes were found in 4.4% of patients with childhood cerebral paralysis and oligophrenia while the pattern of changes in interphase chromatin corresponding to the chromosomal imbalance was detected in 36% of these individuals. In all cases they had from 15 to 30 stigmas of dysembryogenesis.

摘要

作者利用扫描细胞分光光度法和对掺入DNA的3H-胸腺嘧啶β粒子进行辐射测量,研究了唐氏综合征、儿童脑瘫和未分化智力低下的儿童及青少年淋巴细胞间期核中的染色质,以及健康受试者的染色质。将所得结果与中期染色体的细胞遗传学检查结果和胚胎发育异常的标记数量进行了比较。在4.4%的儿童脑瘫和智力低下患者中发现了中期染色体畸变,而在这些个体的36%中检测到了与染色体失衡相对应的间期染色质变化模式。在所有病例中,他们有15至30个胚胎发育异常的标记。

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