21三体综合征中额外染色体的母源和父源起源
Maternal and paternal origin of extra chromosome in trisomy 21.
作者信息
Mikkelsen M, Hallberg A, Poulsen H
出版信息
Hum Genet. 1976 Apr 15;32(1):17-21. doi: 10.1007/BF00569972.
PMID:131105
Abstract
Fluorescence markers were studied in 40 patients with Down's syndrome and their parents. In 11 cases maternal and in 5 cases paternal non-disjunction could be shown. The disjunctional event occurred in the first meiotic division in 5 maternal and in 2 paternal cases. A second division failure was found in 4 maternal and 2 paternal cases. In 3 cases the failure could either be of first or second meiotic division origin.
摘要
对40例唐氏综合征患者及其父母进行了荧光标记研究。在11例中可显示母源不分离，5例中可显示父源不分离。5例母源和2例父源病例的不分离事件发生在第一次减数分裂。在4例母源和2例父源病例中发现了第二次分裂失败。在3例中，失败可能源于第一次或第二次减数分裂。
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