Bastaki L A, Hegazy F, Al-Heneidi M M, Turki N, Azab A S, Naguib K K
Kuwait Medical Genetics Centre, Kuwait.
East Mediterr Health J. 2004 Jan-Mar;10(1-2):116-24.
In a prospective study in Kuwait, 182 mentally retarded male patients who fulfilled 5 or more clinical criteria of fragile X syndrome were screened using polymerase chain reaction (PCR) testing. Twenty patients (11%) were highly suspected of having fragile X syndrome due to mutation at the FRAXA locus; none had mutation at the FRAXE locus. Of these, 11 (55%) were confirmed fragile-X-positive by both cytogenetic and PCR techniques. The most frequent clinical features were: prominent forehead, high arched palate, hyperextensible joints, long ears, prominent jaw, height > 10th centile and attention-deficit hyperactivity. Less common were avoidance of eye contact (45%), autism (45%) and seizures (30%). Large testes were found in 55% of cases. Pre-pubertal and post-pubertal clinical criteria were different.
在科威特进行的一项前瞻性研究中，对182名符合5项或更多脆性X综合征临床标准的智力迟钝男性患者采用聚合酶链反应（PCR）检测进行筛查。20名患者（11%）因FRAXA位点突变而高度怀疑患有脆性X综合征；无一例在FRAXE位点发生突变。其中，11名（55%）通过细胞遗传学和PCR技术被确认为脆性X阳性。最常见的临床特征为：额头突出、高拱腭、关节过度伸展、耳朵长、下巴突出、身高高于第10百分位以及注意力缺陷多动。较少见的是避免眼神接触（45%）、自闭症（45%）和癫痫发作（30%）。55%的病例发现有大睾丸。青春期前和青春期后的临床标准有所不同。
