Martin R H
Department of Pediatrics, Faculty of Medicine, University of Calgary, Canada.
Am J Hum Genet. 1991 May;48(5):856-61.
Human sperm chromosomes were studied in a man heterozygous for a pericentric inversion of chromosome 3(p25q21). The pronuclear chromosomes were analyzed after in vitro penetration of golden hamster eggs. A total of 144 sperm were examined: 69.2% were chromosomally balanced and 30.8% were recombinant. Of the balanced complements, the proportion with a normal chromosome 3 (37.6%) was approximately equal to the proportion with an inverted 3 (31.6%). Of the recombinant complements, the proportion of sperm with a duplication q/deletion p (17.3%) was approximately equal to the reciprocal event of duplication p/deletion q (13.5%). The recombinant chromosome 3 with a duplication q and deletion p has been observed in several abnormal children, but the duplication p/deletion q has never been reported. My results demonstrate that both recombinant chromosomes are produced as expected from an unequal number of crossovers within an inversion loop. In all likelihood the duplication p/deletion q chromosome is an early embryonic lethal because of the amount of genetic material deleted. The proportions of X-bearing (48.9%) and Y-bearing sperm (51.1%) were not significantly different from the expected 1:1 ratio. There was no evidence for an interchromosomal effect. Of the three inversions studied by human sperm chromosome analysis, recombinant chromosomes have been observed only in this case.
在一名3号染色体（p25q21）臂间倒位杂合子男性中对人类精子染色体进行了研究。在金黄仓鼠卵体外受精后对原核染色体进行了分析。共检查了144条精子：69.2%染色体平衡，30.8%为重组型。在平衡型互补体中，具有正常3号染色体的比例（37.6%）与具有倒位3号染色体的比例（31.6%）大致相等。在重组型互补体中，具有q重复/p缺失的精子比例（17.3%）与p重复/q缺失的互补事件比例（13.5%）大致相等。具有q重复和p缺失的重组3号染色体已在几名异常儿童中观察到，但p重复/q缺失从未有过报道。我的结果表明，两条重组染色体都是由倒位环内不等数量的交叉互换按预期产生的。很可能p重复/q缺失染色体是早期胚胎致死的，因为缺失的遗传物质数量。携带X染色体的精子比例（48.9%）和携带Y染色体的精子比例（51.1%）与预期的1:1比例无显著差异。没有染色体间效应的证据。在通过人类精子染色体分析研究的三个倒位中，仅在这种情况下观察到了重组染色体。
