1例身材矮小和少精子症患者合并非嵌合的46,X,pse dic(Y)(p11.32)的临床和细胞分子遗传学研究

Clinical and molecular genetic investigations on a patient with short stature,oligospermatism and non-mosaic 46,X,pse dic(Y)(p11.32)

目的报告1例非嵌合假双着丝粒Y染色体而导致身材矮小和少精子症的案例。方法对患者进行G-显带和荧光原位杂交(FISH),分析染色体核型。用CytoScanTMHD Array芯片证实染色体拷贝数变化。结果根据G-显带、FISH及芯片结果,患者核型为46,X,pse dic(Y)(p11.32)(Yqte→Yp11.32::Yp11.32→Yqter).ish pse dic(Y)(p11.32)(SHOX-,SRY++,DYZ3++).array Yp11.32(PLCXD1-SHOX)×0,Yp11.32q12(SRY-IL9R)×2。结论患者身材矮小症是由于Y染色体短臂末端部分缺失,SHOX基因单倍剂量缺失造成的。精子发生障碍的原因可能是由于Y染色体短臂末端拟常染色体区Ⅰ结构畸变,致使减数分裂Ⅰ期染色体联会重组障碍,减数分裂停滞。

Objective To investigate the molecular genetic characteristics of a patient with short statureand oligospermatism caused by non-mosaic pseudo-dicentric Y chromosome[pse dic（Y）].Methods The karyotype of the patient was analyzed by G-banding and fluorescent in situ hybridization（FISH）,and the changes of chromosome copy number were demonstrated by CytoScanTM HD array.Results The karyotype of the patient was identified as 46,X,pse dic（Y）（p11.32）（Yqte→Yp11.32：Yp11.32→Yqter）.ish pse dic（Y）（p11.32）（SHOX-,SRY＋＋,DYZ3＋＋）.array Yp11.32（PLCXD1-SHOX）×0,Yp11.32q12（SRY-IL9R）×2.Conclusion The short stature of the patient could be due to the excalation of the short arm end of Y chromosome and the haploinsufficiency of SHOX gene.The cause of spermatogenic failure of the patient may be associated with aberration in pseudoautosomal region 1 on the rearranged Y chromosome,which induced the deficiency of X-Y pairing or recombination,and meiosis failed to occur subsequently.