Chiu P C, Yuh Y S, Perng C K, Li S Y, Wang-Wuu S, Wuu K D
Institute of Genetics, National Yang Ming Medical College, Taipei, Taiwan, R.O.C.
J Formos Med Assoc. 1992 Dec;91(12):1162-5.
The major concern of the national population policy in Taiwan in recent years has been to lower the incidence of hereditary diseases and mental retardation in the general population. It has been estimated that there are around 10,000 mentally retarded school children in Taiwan. If effective chromosomal screening can be extended to these children, some of the family members who are carriers of balanced chromosomal rearrangements may benefit from follow-up studies and genetic counseling. The present report is the result of a pilot study conducted from 1988 to 1991 to explore the possibility of chromosomal screening of mentally retarded school children in Taipei. A total of 871 blood samples were collected from 1,147 children registered in 46 schools or residing in homes for the retarded. Chromosomal analysis was successfully accomplished on 674 out of 871 blood samples. The following chromosomal abnormalities were observed: 28 Down's syndrome, four Klinefelter syndrome, one XYY, one triple X, 11 translocations, seven inversions, four mosaics, three duplications, one deletion and one with an extra marker chromosome. After follow-up cytogenetic analyses of 13 families with probands with structural chromosomal anomalies, three of these families were shown to have one or two carriers of balanced translocated chromosomes. It seems that the present screening system would not be practical or cost-effective if it were applied island-wide in the future.
近年来，台湾地区国家人口政策的主要关注点一直是降低普通人群中遗传性疾病和智力发育迟缓的发病率。据估计，台湾约有10000名智力发育迟缓的学童。如果能将有效的染色体筛查扩展到这些儿童身上，一些携带平衡染色体重排的家庭成员可能会从后续研究和遗传咨询中受益。本报告是1988年至1991年进行的一项试点研究的结果，旨在探索对台北市智力发育迟缓学童进行染色体筛查的可能性。共从46所学校登记的1147名儿童或智障儿童之家的儿童中采集了871份血样。871份血样中的674份成功完成了染色体分析。观察到以下染色体异常情况：28例唐氏综合征、4例克兰费尔特综合征、1例XYY、1例XXX、11例易位、7例倒位、4例嵌合体、3例重复、1例缺失和1例带有额外标记染色体。在对13个先证者患有染色体结构异常的家庭进行后续细胞遗传学分析后，发现其中3个家庭有1名或2名平衡易位染色体携带者。如果将来在全岛应用目前的筛查系统，似乎既不实用也不具有成本效益。
