Sasagawa I, Ishigooka M, Kato T, Hayami S, Hashimoto T, Nakada T
Department of Urology, Yamagata University, School of Medicine, Japan.
Scand J Urol Nephrol. 1996 Feb;30(1):75-6. doi: 10.3109/00365599609182354.
A phenotypically male of dicentric Y chromosome with no evidence of sex chromosomal mosaicism is reported. Staining of fluorescence in situ hybridization using Y chromosome centromere-specific DNA probe showed the presence of two bright fluorescent spots in Y chromosome. Testicular histology revealed maturation arrest at the stage of primary spermatocyte. It is suggested that structural anomaly of the Y chromosome is related to the disturbance of spermatogenesis.
报道了一名具有双着丝粒Y染色体的表型男性,无性染色体嵌合体证据。使用Y染色体着丝粒特异性DNA探针进行荧光原位杂交染色显示Y染色体上存在两个明亮的荧光点。睾丸组织学显示初级精母细胞阶段成熟停滞。提示Y染色体结构异常与精子发生障碍有关。