Martin R H
Department of Pediatrics, Faculty of Medicine, University of Calgary, Alberta, Canada.
Cytogenet Cell Genet. 1993;62(4):199-202. doi: 10.1159/000133475.
Human sperm chromosomes were studied in a man heterozygous for a pericentric inversion (p23q22) of chromosome 8. The pronuclear chromosomes were analyzed after in vitro penetration of golden hamster eggs. A total of 166 sperm were examined; 88.6% were chromosomally balanced and 11.4% were recombinant. Of the balanced complements, the proportion with a normal chromosome 8 (53.6%) was approximately equal to the proportion with an inverted 8 (46.4%). Of the recombinant complements, the proportion of sperm with a duplication of 8q and a deletion of 8p (5.7%) was equal to the reciprocal event of a duplication of 8p and a deletion of 8q (5.7%). The frequencies of X-bearing (53.2%) and Y-bearing sperm (46.8%) were not significantly different from the expected 1:1 ratio. There was no evidence for an interchromosomal effect. A total of four pericentric inversions have been studied by human sperm chromosome analysis; recombinant chromosomes have been observed in two of the four cases.
对一名8号染色体臂间倒位（p23q22）杂合子男性的人类精子染色体进行了研究。在金黄仓鼠卵体外穿透后对原核染色体进行了分析。共检查了166条精子；88.6%的精子染色体平衡，11.4%为重组型。在平衡型染色体中，具有正常8号染色体的比例（53.6%）与具有倒位8号染色体的比例（46.4%）大致相等。在重组型染色体中，具有8号染色体长臂重复和短臂缺失的精子比例（5.7%）与8号染色体短臂重复和长臂缺失的反向事件比例（5.7%）相等。携带X染色体的精子频率（53.2%）和携带Y染色体的精子频率（46.8%）与预期的1:1比例无显著差异。没有证据表明存在染色体间效应。通过人类精子染色体分析共研究了4例臂间倒位；4例中有2例观察到了重组染色体。
