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对一名携带13;14罗伯逊易位杂合子男性的精子进行染色体分析。

Chromosome analysis of spermatozoa from a male heterozygous for a 13;14 Robertsonian translocation.

作者信息

Pellestor F, Sele B, Jalbert H

出版信息

Hum Genet. 1987 Jun;76(2):116-20. doi: 10.1007/BF00284905.

Abstract

Cytogenetic analysis of 78 spermatozoa from a man heterozygous for a t(13;14) Robertsonian translocation was performed. R banding was applied for chromosomal identification. Incidence of normal and balanced complements were respectively 50% and 41.3%. Six unbalanced complements (7.7%) were observed, resulting from adjacent segregation. Although alternate segregation is the most common mode of distribution, the possibility of producing unbalanced zygotes exists. The frequency of abnormalities unrelated to the translocation was 16.5% including 12.8% hypohaploïdy, 2.5% hyperhaploidy, and 1.2% of structural aberrations. An excess of t(13;14) X complements was observed (24 with X versus 14 with Y). This may result from the close association between trivalent (13;14) and X chromosome observed in the pachytene spermatocyte nucleus.

摘要

对一名携带t(13;14)罗伯逊易位杂合子的男性的78个精子进行了细胞遗传学分析。采用R显带技术进行染色体鉴定。正常和平衡染色体组型的发生率分别为50%和41.3%。观察到6个不平衡染色体组型(7.7%),由相邻分离产生。虽然交替分离是最常见的分布模式,但产生不平衡合子的可能性依然存在。与易位无关的异常频率为16.5%,包括12.8%的亚单倍体、2.5%的超单倍体和1.2%的结构畸变。观察到t(13;14) X染色体组型过多(X染色体组型有24个,Y染色体组型有14个)。这可能是由于在粗线期精母细胞核中观察到的三价体(13;14)与X染色体之间的紧密关联所致。

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