Liehr Thomas
Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-80.
Infertility is known to be associated with chromosomal aberrations. Here the author reviews hitherto yet published cases of infertility identified to be carriers of small supernumerary marker chromosomes (sSMC). According to the sSMC web page (http://ssmc-tl. com/Start.html) there are now 225 cases of sSMC detected and characterized for their chromosomal origin and genetic content in infertile but otherwise health persons. In 54% of the cases, sSMC originated from chromosome 15 or 14, and was parentally transmitted in over 50% of the infertile sSMC-carriers. To the best of the authors knowledge, this is the largest review of infertile sSMC-carriers ever done.
已知不孕症与染色体畸变有关。在此,作者回顾了迄今尚未发表的、被确定为小额外标记染色体(sSMC)携带者的不孕症病例。根据sSMC网页(http://ssmc-tl.com/Start.html),目前已检测到225例sSMC病例,并对其染色体起源和基因内容进行了表征,这些病例来自不孕但其他方面健康的人群。在54%的病例中,sSMC起源于15号或14号染色体,并且在超过50%的不孕sSMC携带者中是由父母遗传而来的。据作者所知,这是对不孕sSMC携带者进行的规模最大的一次综述。