脆性X连锁智力障碍：马丁-贝尔综合征。
Fragile X-linked mental retardation: the Martin-Bell syndrome.
作者信息
Richards B W, Sylvester P E, Brooker C
出版信息
J Ment Defic Res. 1981 Dec;25 Pt 4:253-6. doi: 10.1111/j.1365-2788.1981.tb00115.x.
Abstract
Seven members of the original family of sex-linked mental retardation reported by Martin and Bell in 1943 have been re-examined and five of them proved to carry a fragile X chromosome. Some also display the typical facial appearance associated with this anomaly, and some have macro-orchidism. It is proposed that the condition should be designated "The Martin-Bell syndrome."
摘要
1943年马丁和贝尔报道的与性连锁智力迟钝相关的原家族中的七名成员已被重新检查，其中五人被证实携带脆性X染色体。一些人还表现出与这种异常相关的典型面部特征，还有一些人有巨睾症。建议将这种病症命名为“马丁 - 贝尔综合征”。
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