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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.

DOI:10.1007/BF00282300
PMID:7160845
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。

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1
Parental origin of chromosome abnormalities in spontaneous abortions.自然流产中染色体异常的亲代来源。
Hum Genet. 1982;62(2):129-33. doi: 10.1007/BF00282300.
2
Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions.4例自然流产中8三体额外染色体起源的分析。
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Parental origin of autosomal trisomies.常染色体三体的亲本来源。
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本文引用的文献

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