Wei J, Chen B, Jiang Y, Yang Y, Guo Y
Department of Medical Genetics, Shandong Medical University, Jinan, People's Republic of China.
Am J Med Genet. 1993 Sep 1;47(3):307-11. doi: 10.1002/ajmg.1320470302.
Smith-Fineman-Myers syndrome is considered an X-linked mental retardation (XLMR) syndrome. Three families have been reported to date. However, none presented a typical pattern of X-linked inheritance. Here we reported on 5 males with Smith-Fineman-Myers syndrome with similar phenotypic expression as in those cases reported previously; they were distributed in 4 sibships of one large maternal kindred. This finding adds strong support to the hypothesis of the Smith-Fineman-Myers syndrome being a rare XLMR syndrome.
史密斯-法恩曼-迈尔斯综合征被认为是一种X连锁智力障碍（XLMR）综合征。迄今为止已报道了三个家系。然而，没有一个呈现出典型的X连锁遗传模式。在此，我们报告了5名患有史密斯-法恩曼-迈尔斯综合征的男性，其表型表达与先前报道的病例相似；他们分布在一个大型母系家族的4个同胞组中。这一发现为史密斯-法恩曼-迈尔斯综合征是一种罕见的XLMR综合征这一假说提供了有力支持。
