少精子症男性中的两例罗伯逊易位病例及其对胞浆内单精子注射诱导妊娠的影响。

Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmic sperm injection.

作者信息

Veld P A, Weber R F, Los F J, den Hollander N, Dhont M, Pieters M H, Van Hemel J O

机构信息

Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands.

出版信息

Hum Reprod. 1997 Aug;12(8):1642-4. doi: 10.1093/humrep/12.8.1642.

DOI:10.1093/humrep/12.8.1642

PMID:9308785

Abstract

Two case histories are presented documenting structural chromosome abnormalities in infertile males. The abnormalities were detected only after application of intracytoplasmic sperm injection (ICSI) was repeatedly unsuccessful or resulted in an abnormal pregnancy. A mosaic Robertsonian translocation 45,XY,der(13;13)(q10; q10)/46,XY,t(13;13)(p10;p10), der(13p;13p) incompatible with normal offspring was found in a male with extreme oligozoospermia after three subsequent ICSI treatments were unsuccessful and one had resulted in a spontaneous abortion. A second case involved a Robertsonian translocation 45,XY,der(13;14)(q10;q10) which was detected in a male with extreme oligozoospermia after ultrasound abnormalities were found in an ICSI-induced twin pregnancy. Amniocentesis showed an unbalanced 46,XY,+13,der(13;14)(q10;q10) karyotype in one twin and a Robertsonian 45,XX,der(13;14)(q10;q10) karyotype in the other twin. Chromosome analysis of males with abnormal sperm characteristics is advised prior to ICSI.

摘要

本文呈现了两个病例史，记录了不育男性的染色体结构异常情况。这些异常仅在反复进行胞浆内单精子注射（ICSI）未成功或导致异常妊娠后才被检测到。在一名严重少精子症男性中，经过三次后续ICSI治疗均未成功且其中一次导致自然流产后，发现了一种与正常后代不相容的嵌合罗伯逊易位45,XY,der(13;13)(q10;q10)/46,XY,t(13;13)(p10;p10), der(13p;13p)。第二例涉及一名严重少精子症男性，在ICSI诱导的双胎妊娠中发现超声异常后，检测到罗伯逊易位45,XY,der(13;14)(q10;q10)。羊水穿刺显示，其中一个胎儿的核型为不平衡的46,XY,+13,der(13;14)(q10;q10)，另一个胎儿的核型为罗伯逊45,XX,der(13;14)(q10;q10)。建议在进行ICSI之前，对精子特征异常的男性进行染色体分析。