自然流产中染色体异常的亲代来源。

Parental origin of chromosome abnormalities in spontaneous abortions.

作者信息

Meulenbroek G H, Geraedts J P

出版信息

Hum Genet. 1982;62(2):129-33. doi: 10.1007/BF00282300.

Abstract

Tissue cultures were initiated from 130 spontaneous abortion specimens and 81 were successfully karyotyped. Chromosome abnormalities were found in 50 cases: 12 with XO, 27 with trisomy, 6 with triploidy, 1 with tetraploidy and 4 others. The parental origin was determined in 11 cases of trisomy for an acrocentric chromosome. Two cases were uninformative while 9 non-disjunctions were determined and occurred during meiosis I: 7 were maternal and 2 paternal (both with trisomy 21). Three out of 7 cases with trisomy 16 were informative and resulted from a divisional error during the first meiotic division in the mother. All cases of triploidy were informative. They resulted from non-reduction during meiosis I in the mother (2) or dispermy (4).

摘要

从130份自然流产标本中进行组织培养，81份成功进行了核型分析。发现50例染色体异常：12例XO，27例三体，6例三倍体，1例四倍体，另有4例。在11例近端着丝粒染色体三体病例中确定了亲本来源。2例无信息，9例确定为减数分裂I期发生的不分离：7例为母源，2例为父源（均为21三体）。7例16三体病例中有3例有信息，是由母亲第一次减数分裂时的分裂错误导致的。所有三倍体病例均有信息。它们是由母亲减数分裂I期不减数（2例）或双精子受精（4例）导致的。