Mutoh A, Sasagawa I, Tateno T, Sawamura T, Nakada T
Department of Urology, Yamagata University School of Medicine, Japan.
Scand J Urol Nephrol. 1999 Feb;33(1):77-8. doi: 10.1080/003655999750016357.
We report on a boy with long-arm deletion of chromosome 10 and compare this case to 10 previously reported patients. He had right cryptorchidism and absence of the left testis, but the size of his penis was normal. Cytogenetic analysis of the case showed the deficiency of 10q26.1-26.3 and the presence of 10qter. Four of 10 previously reported patients had an intersex phenotype, and all others had combinations of cryptorchidism, micropenis and hypospadias. These facts indicate that the terminal of chromosome 10q is strongly associated with abnormal male development.
我们报告了一名患有10号染色体长臂缺失的男孩，并将该病例与之前报告的10名患者进行了比较。他右侧隐睾，左侧睾丸缺如，但阴茎大小正常。该病例的细胞遗传学分析显示10q26.1 - 26.3缺失，存在10qter。之前报告的10名患者中有4名具有两性畸形表型，其他患者均有隐睾、小阴茎和尿道下裂的组合。这些事实表明10号染色体长臂末端与男性发育异常密切相关。
