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对一名罗伯逊易位45,XY,t(15q;22q)杂合子男性的精子染色体组成进行分析。

Analysis of sperm chromosome complements from a man heterozygous for a robertsonian translocation 45,XY,t(15q;22q).

作者信息

Martin R H, Ko E, Hildebrand K

机构信息

Department of Pediatrics, Faculty of Medicine, University of Calgary, Alberta, Canada.

出版信息

Am J Med Genet. 1992 Jul 15;43(5):855-7. doi: 10.1002/ajmg.1320430520.

Abstract

Chromosome complements were studied in 118 sperm from a man heterozygous for a 15;22 Robertsonian translocation using the human sperm/hamster oocyte fusion technique. Alternate segregation occurred in most spreads (89.6%) and the proportion of normal (42.6%) and balanced complements (47%) was approximately equal. The frequency of sperm that were unbalanced with respect to the translocation was 10.4% and all categories of unbalanced sperm were observed (-15, -22, +15, +22). The frequency of chromosome abnormalities unrelated to the translocation was 7.6%. Since the frequencies of both numerical (3.4%) and structural abnormalities (3.4%) were within the normal range of control donors, there was no evidence for an interchromosomal effect. The frequencies of X-chromosome bearing (48%) and Y-chromosome bearing (52%) sperm were not significantly different from 50%. Data on this translocation were compared to the 4 other reports of cytogenetic analysis in sperm of Robertsonian translocation carriers.

摘要

运用人类精子/仓鼠卵母细胞融合技术,对一名携带15;22罗伯逊易位杂合子男性的118个精子的染色体组型进行了研究。在大多数涂片(89.6%)中发生了交替分离,正常(42.6%)和平衡染色体组型(47%)的比例大致相等。与易位相关的不平衡精子频率为10.4%,并且观察到了所有类型的不平衡精子(-15、-22、+15、+22)。与易位无关的染色体异常频率为7.6%。由于数目异常(3.4%)和结构异常(3.4%)的频率均在对照供体的正常范围内,因此没有证据表明存在染色体间效应。携带X染色体(48%)和携带Y染色体(52%)的精子频率与50%没有显著差异。将关于这种易位的数据与其他4篇关于罗伯逊易位携带者精子细胞遗传学分析的报告进行了比较。

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