Rocchi M, Archidiacono N, Filippi G
Istituto per l'Infanzia, Trieste.
J Genet Hum. 1987 Dec;35(5):351-79.
Eighteen families with X-linked mental retardation (MR) with or without macroorchidism, fragile-X positive at Xq27 (Martin-Bell syndrome) have been studied clinically and cytogenetically. All 58 affected males presented variable degrees of MR, fra(X) (q27) of their peripheral lymphocytes, macroorchidism in all adult patients with the exceptions of one with microorchidism as 47,XXY sex chromosome complement and the other with borderline testes, and characteristic facial appearance. The expression of the marker X in the heterozygotes seems to be more related to the mental development rather than the age of the individual. In two families the transmission of the syndrome through unaffected males seems probable.
对18个患有X连锁智力迟钝（MR）的家族进行了临床和细胞遗传学研究，这些家族有或没有巨睾症，在Xq27处脆性X阳性（马丁-贝尔综合征）。所有58名受影响的男性都表现出不同程度的智力迟钝、外周淋巴细胞的fra(X)(q27)、除一名47,XXY性染色体组成的小睾症患者和另一名睾丸临界患者外所有成年患者的巨睾症，以及特征性面容。杂合子中标记X的表达似乎与智力发育而非个体年龄更相关。在两个家族中，该综合征通过未受影响的男性传递似乎是可能的。
