Karaer K, Ergun M A, Weise A, Ewers E, Liehr T, Kosyakova N, Mkrtchyan H
Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara 06500, Turkey.
Genet Couns. 2010;21(4):397-404.
Infertility is defined as the inability to conceive after one year of regular unprotected intercourse. Constitutional numerical and/or structural chromosomal aberrations like sex-chromosome aberrations are one of the possible factors involved in fertility problems. Reciprocal translocations between an X-chromosome and an autosome are rarely seen in men. Male carriers of an X-autosome translocation are invariably sterile, regardless of the position of the breakpoint in the X-chromosome. Breakpoints in autosomal chromosomes could also be involved in male infertility. In this paper, we describe a 31-year-old male with azoospermia. GTG banding with high resolution multicolor-banding (MCB) techniques revealed a karyotype 46,Y,t(X;1)(p22.3;q25), and we discuss how the breakpoint of this translocation could affect male infertility. As a conclusion, cytogenetic evaluation of infertile subjects with azoospermia should be considered in the first place before in vitro fertilisation procedures are planned.
不孕症的定义是在规律无保护性交一年后仍无法受孕。诸如性染色体畸变等先天性数量和/或结构染色体异常是导致生育问题的可能因素之一。X染色体与常染色体之间的相互易位在男性中很少见。X-常染色体易位的男性携带者总是不育的，无论X染色体上断点的位置如何。常染色体上的断点也可能与男性不育有关。在本文中，我们描述了一名31岁的无精子症男性。采用高分辨率多色带（MCB）技术的GTG显带显示其核型为46，Y，t（X；1）（p22.3；q25），并且我们讨论了这种易位的断点如何影响男性不育。总之，在计划体外受精程序之前，首先应考虑对无精子症的不育患者进行细胞遗传学评估。
