Ropers H H, Wienker T F, Grimm T, Schroetter K, Bender K
Am J Hum Genet. 1977 Jul;29(4):361-70.
Severe clinical signs of Fabry disease were observed in four of eight heterozygous daughters of a male patient. Activities of alpha-galactosidase A in serum, white blood cells, and hair roots of the manifesting carriers were markedly lower than 50% of normal. These findings are not easy to interpret in terms of random X inactivation alone; several alternative models including nonrandom (preferential) X inactivation are discussed.
在一名男性患者的八名杂合子女儿中，有四名出现了法布里病的严重临床症状。症状携带者血清、白细胞和发根中的α-半乳糖苷酶A活性明显低于正常水平的50%。仅根据随机X染色体失活很难解释这些发现；本文讨论了几种替代模型，包括非随机（优先）X染色体失活。
