Tiepolo L, Zuffardi O, Fraccaro M, di Natale D, Gargantini L, Müller C R, Ropers H H
Hum Genet. 1980;54(2):205-6. doi: 10.1007/BF00278973.
A male child and his mother who are nullisomic and monosomic, respectively, for the distal portion of Xp because of an unbalanced X-Y translocation were tested for steroid sulfatase activity after clinical examination had yielded evidence for ichthyosis in the boy. Deficiency of steroid sulfatase was found in the male patient, while in his mother enzyme levels were in the heterozygous range. These results, based on cytogenetic evidence obtained with an elongation technique, indicate that the STS locus is at Xp 223.
一名男性儿童及其母亲因X-Y不平衡易位分别导致Xp远端部分单体和缺体，在临床检查发现该男孩患有鱼鳞病后，对他们进行了类固醇硫酸酯酶活性检测。发现男性患者存在类固醇硫酸酯酶缺乏，而其母亲的酶水平处于杂合范围。这些基于延伸技术获得的细胞遗传学证据的结果表明，STS基因座位于Xp 223。
