Wuu K D, Chiu P C, Li S Y, Chen J Y, Chao M C, Ko F J, Wang T R, Hsiao K J
Institute of Genetics, National Yang Ming Medical College, Taipei, Taiwan.
Jinrui Idengaku Zasshi. 1991 Sep;36(3):267-74. doi: 10.1007/BF01910545.
Governmental officials as well as medical scientists in Taiwan have worked hard in recent years to develop and to implement various measures, such as prenatal diagnosis and neonatal screening, to lower the incidence of hereditary diseases and mental retardation in the population. An inquiry into the possibility of devising a chromosomal and biochemical screening program and to apply it routinely to all the mentally retarded school children island-wide was the major aim of the present study. A collection of 1,614 blood samples was screened for phenylketonuria (PKU), galactosemia, homocystinuria, biotinidase deficiency, and congenital hypothyroidism. The IQ of these children ranged from 50-75 (1,397 children, moderate group) to less than 50 (217 children, severe group). Six cases of PKU (one tetrahydrobiopterin deficient and five classical) and three cases of thyroid dysfunction were found. The overall incidence of these two diseases was 0.56%. Of the 1,614 blood samples, 1,323 were cultured and karyotyped successfully. One hundred and twenty-five of them had chromosome abnormalities. The majority (64 out of 125) were trisomy 21. A remarkable difference in the percentage of mentally retarded children with chromosome abnormalities was observed between the moderate (7.87%) and severe (17.51%) retarded.
近年来，台湾的政府官员和医学科学家努力制定并实施了各种措施，如产前诊断和新生儿筛查，以降低人群中遗传性疾病和智力迟钝的发病率。本研究的主要目的是探讨制定一项染色体和生化筛查计划并将其常规应用于全岛所有智障学童的可能性。收集了1614份血样，对苯丙酮尿症（PKU）、半乳糖血症、高胱氨酸尿症、生物素酶缺乏症和先天性甲状腺功能减退症进行了筛查。这些儿童的智商范围为50 - 75（1397名儿童，中度组）至低于50（217名儿童，重度组）。发现了6例苯丙酮尿症（1例四氢生物蝶呤缺乏型和5例经典型）和3例甲状腺功能障碍。这两种疾病的总体发病率为0.56%。在1614份血样中，1323份成功培养并进行了核型分析。其中125例有染色体异常。大多数（125例中的64例）为21三体。在中度智障儿童（7.87%）和重度智障儿童（17.51%）中，观察到染色体异常的智障儿童比例存在显著差异。
