Félix T M, de Pina-Neto J M
Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brasil.
Arq Neuropsiquiatr. 1998 Mar;56(1):9-17. doi: 10.1590/s0004-282x1998000100002.
Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women. The clinical evaluation, IQ level measurements and cytogenetic studies were performed in 40 subjects, 20 males and 20 females. The fragile X diagnosis was confirmed in all the male individuals with mental retardation. In the postpubertal subjects the most frequent clinical signs were inner canthal distance < 3.5 cm, macro-orchidism, long and narrow face and high arched palate while in the prepubertal subjects the behavioral characteristics as hyperactivity and poor eye contact were the most frequent and were observed in all patients. Twenty six percent of the heterozygous women presented with mental retardation and showed clinical signs rather than behavioral ones. All male individuals with mental retardation were observed as having fragile X [fra(X)] in lymphocytes culture. Sixty three percent of women showed fra(X). There was a positive correlation between the frequency of fra(X) and the clinical characteristics. We emphasize the importance of the clinical evaluation in the study of familial mental retardation and in the screening of isolated cases with suspect of having the fragile X syndrome.
对三个患有脆性X综合征的家庭进行了研究，目的是确定受影响个体和杂合子女性中最常见的临床体征。对40名受试者（20名男性和20名女性）进行了临床评估、智商水平测量和细胞遗传学研究。所有智力发育迟缓的男性个体均确诊为脆性X综合征。在青春期后受试者中，最常见的临床体征是内眦间距<3.5cm、巨睾症、长脸且窄、高拱腭，而在青春期前受试者中，最常见的行为特征是多动和眼神交流差，所有患者均有这些表现。26%的杂合子女性存在智力发育迟缓，且表现出临床体征而非行为体征。所有智力发育迟缓的男性个体在淋巴细胞培养中均观察到脆性X[fra(X)]。63%的女性显示出fra(X)。fra(X)的频率与临床特征之间存在正相关。我们强调临床评估在家族性智力发育迟缓研究以及对疑似患有脆性X综合征的散发病例进行筛查中的重要性。
