Hens L, Bonduelle M, Liebaers I, Devroey P, Van Steirteghem A C
Department of Medical Genetics, Vrije Universiteit Brussel, Belgium.
Hum Reprod. 1988 May;3(4):451-7. doi: 10.1093/oxfordjournals.humrep.a136726.
Cytogenetic studies were performed in 500 couples referred for in-vitro fertilization or gamete (zygote) intra-Fallopian transfer. Thirteen individuals (1.3%) with chromosomal abnormalities were found. Four major types of anomalies were observed: reciprocal translocations (n = 3), inversions (n = 2), iso-Xq chromosomes (n = 2) and sex chromosome number mosaics (n = 4). Moreover two males with respectively a 47,XYY and a 47,XY,mar+ karyotype were identified. These data pointed to a higher incidence of chromosomal aberrations in this infertile population as compared to a neonatal population without obvious chromosomal pathology. Analysis of the chromosomes which were involved in hyperdiploidy and hypodiploidy in the 30,000 metaphases evaluated, showed a high proportion of cells that had lost or gained an X-chromosome. A puzzling finding was the statistically significant low incidence of 45,X metaphases (0.9%) in women of couples treated on andrological indication as compared to the frequency of 45,X chromosome complements in women with tubal disease (4.0%) or of couples with an idiopathic (4.3%) or mixed female and male (6.7%) indication.
对500对因体外受精或配子（合子）输卵管内移植前来就诊的夫妇进行了细胞遗传学研究。发现13名个体（1.3%）存在染色体异常。观察到四种主要类型的异常：相互易位（n = 3）、倒位（n = 2）、异Xq染色体（n = 2）和性染色体数目嵌合体（n = 4）。此外，还鉴定出两名男性，其核型分别为47,XYY和47,XY,mar+。这些数据表明，与无明显染色体病变的新生儿群体相比，该不孕群体中染色体畸变的发生率更高。在评估的30000个中期相中，对涉及超二倍体和亚二倍体的染色体进行分析，结果显示有很大比例的细胞丢失或获得了一条X染色体。一个令人困惑的发现是，与输卵管疾病女性（4.0%）或特发性（4.3%）或男女混合性指征夫妇（6.7%）中45,X染色体补体的频率相比，因男性指征接受治疗的夫妇中女性的45,X中期相发生率（0.9%）在统计学上显著较低。
