Pascual-Castroviejo I, López Pajares I, Delicado A
An Esp Pediatr. 1982 Dec;17(6):466-74.
Six males, four adults and two children, with very important mental deficiency and speech disturbances, belonging to two families are presented. The six patients show the clinical peculiarities of the "X-linked mental retardation, macroorchidism, and the Xq27 fragile site", but the chromosomal alteration only was presented in five cases. Patient who did not have the chromosomal defect presented the same IQ than his brothers, but he had a less severe macroorchidism, a better speech and more normal clinical features. One of the patients shows a shorter arm which linkage with the syndrome is discussed.
本文介绍了来自两个家庭的六名男性，其中四名成年人和两名儿童，他们存在严重智力缺陷和言语障碍。这六名患者表现出“X连锁智力迟钝、巨睾症和Xq27脆性位点”的临床特征，但只有五例出现了染色体改变。没有染色体缺陷的患者与其兄弟智商相同，但他的巨睾症较轻，言语能力较好，临床特征更正常。其中一名患者显示出一条较短的手臂，并讨论了其与该综合征的连锁关系。
