【摘要】 对我国102例Down综合征患者的随机样本作了细胞遗传学研究。计得游离21三体型96例(94.12%)、G/21易位型3例(2.94%)、正常/21三体嵌合型2例(1.96%),罕见的双重非整倍体嵌合体1例(0.96%)。本系列合并台湾77例,得出我国179例患者染色体畸变类型的相对频率。将此合并数据与白人患者和日本患者相比,未见显著差异。本文还提出了按患者出生时母令估计检出散发性和遗传性易位型Down综合征患者的概率,并讨论了本工作检出一例罕见双重非整倍体嵌合体(45,XO/47,XY,+21)的可能起源。更多还原

【Abstract】 Cytogenetic studies are carried out on a random sample of 102 Chinese patients with Down’s syndrome. Among them, 96 cases had free 21 trisomy (94.12%), 3 cases had a G/21 translocation (2 of 21/21, 1 of 22/21, 2.94%), 2 cases with normal/21 trisomy mosaicism (1.96%) and 1 case had the rare karyotype of double aneuploidy mosaicism (0.96%). Together with the 77 random cases reported by Huang et al (1967) in Taiwan Province, the relative frequencies of various chromosomal aberrations in 197 Chinese patients were obtained. The data were comparedowith those of white patients in western countries and those of Japanese patients, and no significant difference was found.The probabilities of detecting various sporadic and inherited translocational cases of Down’s syndrome according to mother’s age were presented and the probable mechanism of a rare double aneuploidy mosicism found in this series was also discussed.更多还原