Rhoads F A, Oglesby A C, Mayer M, Jacobs P A
Am J Med Genet. 1982 Jun;12(2):205-17. doi: 10.1002/ajmg.1320120211.
We report an oriental family with sex-linked mental retardation, macroorchidism, and a marker or fragile site on the X chromosome--mar(X)(q28). The three affected males resemble clinically most previously reported affected Caucasians. The marker was present in four female 40-70 years old, including one with normal intelligence. Transmission of the disorder appears to have taken place through a clinically normal male to his grandson.
我们报告了一个患有性连锁智力迟钝、巨睾症以及X染色体上一个标记或脆性位点——mar(X)(q28)的东方家族。三名受影响男性在临床上与之前报道的受影响高加索人最为相似。该标记存在于四名40 - 70岁的女性中,其中一名智力正常。这种疾病似乎是通过一名临床正常的男性传递给了他的孙子。