Tuerlings J H, de France H F, Hamers A, Hordijk R, Van Hemel J O, Hansson K, Hoovers J M, Madan K, Van der Blij-Philipsen M, Gerssen-Schoorl K B, Kremer J A, Smeets D F
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Eur J Hum Genet. 1998 May-Jun;6(3):194-200. doi: 10.1038/sj.ejhg.5200193.
The chance of a male with severe oligozoospermia or azoospermia achieving a pregnancy has undergone a revolutionary increase with the introduction of the intracytoplasmic sperm injection technique (ICSI). However, since ICSI circumvents part of the natural sperm selection mechanisms, the possible transmission of genetic defects to the offspring is a major concern. Cytogenetic analysis is a relatively simple technique to identify at least the carriers of a chromosomal aberration before starting the ICSI procedure. In order to assess the frequency of chromosomal aberrations in male ICSI candidates, we have performed a nationwide cytogenetic study. Of the 1792 males examined, 72 (4.0%) revealed a chromosomal aberration, and one individual even had two. Numerical sex chromosomal aberrations and Robertsonian translocations predominated, followed by reciprocal translocations, inversions and supernumerary marker chromosomes. The different implications, in case a chromosomal aberration is encountered prior to ICSI, are discussed.
随着卵胞浆内单精子注射技术(ICSI)的引入,严重少精子症或无精子症男性实现妊娠的几率有了革命性的提高。然而,由于ICSI绕过了部分自然精子选择机制,遗传缺陷向后代的可能传递成为一个主要问题。细胞遗传学分析是一种相对简单的技术,可在开始ICSI程序前至少识别出染色体畸变的携带者。为了评估男性ICSI候选者中染色体畸变的频率,我们进行了一项全国性的细胞遗传学研究。在接受检查的1792名男性中,72名(4.0%)显示出染色体畸变,甚至有一人有两种畸变。性染色体数目畸变和罗伯逊易位占主导,其次是相互易位、倒位和额外标记染色体。文中讨论了在ICSI前遇到染色体畸变的不同影响。