21三体综合征中的不分离现象：对110个家庭的染色体异态性研究
Non-disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families.
作者信息
Mikkelsen M, Poulsen H, Grinsted J, Lange A
出版信息
Ann Hum Genet. 1980 Jul;44(1):17-28. doi: 10.1111/j.1469-1809.1980.tb00942.x.
QM variants on chromosome 21 and silver staining of NOR regions were applied in the study of non-disjunction in 110 families from different parts of Denmark. In 76% of the families the study was informative. Paternal failures were observed in 11% on Funen as compared 23.5% on Zealand. In one family, crossing-over on the short arms of chromosome 21 in the mother and mitotic non-disjunction of chromosome 21 was observed. Maternal first meiotic error predominates in both high maternal and low maternal age. Also in paternal non-disjunction failures of first meiotic division predominate. Two maternally and one paternally originated cases of de novo translocations were observed.
应用21号染色体上的QM变异和核仁组织区（NOR）的银染技术，对来自丹麦不同地区的110个家庭的不分离现象进行了研究。在76%的家庭中，该研究具有信息价值。在菲英岛，父源失败率为11%，而西兰岛为23.5%。在一个家庭中，观察到母亲21号染色体短臂上的交叉互换以及21号染色体的有丝分裂不分离现象。在高产妇龄和低产妇龄中，母亲第一次减数分裂错误均占主导。在父源不分离中，第一次减数分裂失败也占主导。观察到两例源自母亲和一例源自父亲的新发易位病例。
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