Rosenbusch B E, Schneider M, Hanf V
Department of Gynecology and Obstetrics, University of Ulm, Germany.
Fertil Steril. 1998 Feb;69(2):344-6. doi: 10.1016/s0015-0282(97)00470-6.
To describe a peculiar combination of cytogenetic abnormalities in a tripronuclear zygote obtained after intracytoplasmic sperm injection (ICSI).
Case report.
A university hospital.
PATIENT(S): A couple with a 4-year history of primary infertility. Intracytoplasmic sperm injection was performed because of male factor infertility (oligoteratozoospermia).
INTERVENTION(S): Ultrasound-guided transvaginal follicular aspiration.
MAIN OUTCOME MEASURE(S): Chromosomal karyotype of a tripronuclear one-cell zygote.
RESULT(S): Unexpectedly, a tetraploid [92,XXYY, end3, -18, end18] chromosome complement was found, indicating injection of a diploid spermatozoon carrying two Y chromosomes. The parental origin of the other abnormalities could not be determined. The missing chromosomes may be attributed either to a hypodiploid [44,YY,-18,-18] sperm cell or to a hypohaploid [22,X,-18] oocyte. The exact tetraploid count was restored by endoreduplication of two chromosomes. This event could have occurred in one and the same or in two different pronuclei.
CONCLUSION(S): Cytogenetic analysis of multipronuclear zygotes appears useful for assessing the incidence of chromosomal abnormalities at the earliest stage of conception. In addition to other methods, it also may contribute to evaluation of the transmission of aberrations by spermatozoa from infertile men.
描述经胞浆内单精子注射（ICSI）获得的三原核合子中细胞遗传学异常的一种特殊组合。
病例报告。
大学医院。
一对有4年原发性不孕病史的夫妇。因男性因素不育（少弱畸精子症）行胞浆内单精子注射。
超声引导下经阴道卵泡抽吸术。
三原核单细胞合子的染色体核型。
意外发现一个四倍体[92,XXYY, end3, -18, end18]染色体组型，提示注射了携带两条Y染色体的二倍体精子。其他异常的亲本来源无法确定。缺失的染色体可能归因于一个亚二倍体[44,YY,-18,-18]精子细胞或一个亚单倍体[22,X,-18]卵母细胞。通过两条染色体的核内复制恢复了确切的四倍体数目。这一事件可能发生在同一个或两个不同的原核中。
多原核合子的细胞遗传学分析似乎有助于在受孕的最早阶段评估染色体异常的发生率。除其他方法外，它还可能有助于评估不育男性精子中畸变的传递情况。
