Hagerman R, Kemper M, Hudson M
Am J Dis Child. 1985 Jul;139(7):674-8. doi: 10.1001/archpedi.1985.02140090036021.
The fragile X syndrome is a relatively common form of mental retardation that tends to affect boys more severely than girls. The syndrome is associated with a fragile site at q27 on the X chromosome and with physical features including large or prominent ears and macro-orchidism. Four boys had physical and cytogenetic features of the fragile X syndrome. However, the IQ scores of these patients extended into the normal range. All four patients demonstrated similar learning difficulties that included hyperactivity, visuomotor incoordination, language deficits, and academic delays in mathematics. The fragile X syndrome should be considered in the differential diagnosis of learning disabled children.
脆性X综合征是一种相对常见的智力发育迟缓形式,对男孩的影响往往比对女孩更严重。该综合征与X染色体q27处的一个脆性位点以及包括大耳朵或突出耳朵和巨睾症在内的身体特征有关。四名男孩具有脆性X综合征的身体和细胞遗传学特征。然而,这些患者的智商分数延伸至正常范围。所有四名患者都表现出类似的学习困难,包括多动、视觉运动不协调、语言缺陷以及数学学习延迟。在对学习障碍儿童进行鉴别诊断时应考虑脆性X综合征。