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自1969年以来有人发现性连遗传性精神发育迟滞者带有标记X染色体,这种异常称为脆性X综合征。脆性X是生长发育迟滞的一常见原因,主要合并非进行性的X性连精神发育迟滞。本文作者收集了25例男性和3例女性神经、生长发育异常的病人,平均年龄21.3岁。作者采集了病人的详尽病史,进行了体查和家系调查,必要时还进行了EEG、CT、B AER(脑干听诱发反应)等方面的研究。28例及部分双亲做了血脆性X染色体的研究。结果表明:28例中18例有家族史,10例为散发。成年男性患者均有巨睾症,13例男性患者有特殊面
Since 1969, it has been found that patients with inherited mental retardation have marked the X chromosome, which is called Fragile X Syndrome. Fragile X is a common cause of growth and development retardation, the main merger of non-progressive X sex with mental retardation. The authors collected from 25 men and 3 women with abnormal growth and development, with an average age of 21.3 years. The author collected the patient’s detailed medical history, physical examination and pedigree investigation, if necessary, also conducted a study of EEG, CT, B AER (Brainstem Auditory Evoked Response) and so on. 28 cases and some parents did a study of blood fragile X chromosome. The results showed that: 28 cases, 18 patients had a family history, 10 cases were disseminated. Adult male patients have giant testicular disease, 13 cases of male patients with special noodles