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台湾智障学童的细胞遗传学研究——特别关注脆性X染色体

A cytogenetic study of mentally retarded school children in Taiwan with special reference to the fragile X chromosome.

作者信息

Li S Y, Tsai C C, Chou M Y, Lin J K

机构信息

Cytogenetics Laboratory, Chung Shan Medical and Dental College, Taichung, Taiwan, Republic of China.

出版信息

Hum Genet. 1988 Aug;79(4):292-6. doi: 10.1007/BF00282163.

DOI:10.1007/BF00282163
PMID:2970423
Abstract

A cytogenetic study was made on 341 mentally retarded children in the Provincial Nantou Rehabilitation Center for the Mentally Retarded and the St. Raphael Opportunity Center in Tainan. Of the 89 mentally retarded children with chromosomal abnormalities, 63 had Down syndrome, 13 had the fragile X [fra(X)] syndrome, and the remaining had other aneuploid constitutions. Family studies were possible for 2 of the 13 fra(X) probands. The results of this study illustrate the contribution of chromosomal abnormalities to the pathogenesis of mental retardation in children.

摘要

对南投省立智障复健中心和台南圣拉斐尔启智中心的341名智障儿童进行了细胞遗传学研究。在89名患有染色体异常的智障儿童中，63名患有唐氏综合征，13名患有脆性X染色体[fra(X)]综合征，其余的患有其他非整倍体构成。对13名fra(X)先证者中的2名进行了家系研究。本研究结果说明了染色体异常对儿童智力发育迟缓发病机制的影响。

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2
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本文引用的文献

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Expression in lymphocyte and fibroblast culture of the fragile X chromosome: a new technical approach.脆性X染色体在淋巴细胞和成纤维细胞培养中的表达：一种新的技术方法。
Hum Genet. 1981;59(2):166-9. doi: 10.1007/BF00293069.
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Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites.人类染色体上的遗传性脆性位点。VIII. 关于叶酸敏感脆性位点的初步群体细胞遗传学数据。
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Molecular and cytogenetic analyses of autism in Taiwan.台湾自闭症的分子与细胞遗传学分析
Hum Genet. 1993 Nov;92(5):441-5. doi: 10.1007/BF00216447.
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Absence of FMR-1 gene expression can be detected with RNA extracted from dried blood specimens.利用从干血标本中提取的RNA可以检测到FMR-1基因表达缺失。
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Fragile (X) X-linked mental retardation I: relationship between age and intelligence and the frequency of expression of fragil (X)(q28).脆性X连锁智力低下I：年龄与智力的关系以及脆性X（q28）的表达频率
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A chromosomal survey of an institution for the mentally retarded. Study of 476 karyotypes with banding techniques and clinical assessment of patients with chromosome anomalies.一所智障机构的染色体调查。运用显带技术对476个核型进行研究，并对染色体异常患者进行临床评估。
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The strength of association between fragile (X) chromosome presence and mental retardation.脆性（X）染色体的存在与智力迟钝之间的关联强度。
Clin Genet. 1983 Jun;23(6):436-40. doi: 10.1111/j.1399-0004.1983.tb01978.x.
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Marker X-associated mental retardation. A study of 150 retarded males.与标记X相关的智力迟钝。对150名智力迟钝男性的研究。
Clin Genet. 1983 Jun;23(6):397-404. doi: 10.1111/j.1399-0004.1983.tb01973.x.
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Double balanced de novo translocations involving chromosomes 4/15 and 5/12 in a mentally retarded boy.一名智力发育迟缓男孩中涉及4号/15号和5号/12号染色体的双平衡新发易位。
Proc Natl Sci Counc Repub China B. 1984 Jan;8(1):54-9.
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FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition.氟脱氧尿苷对X染色体脆性位点的诱导作用：叶酸和胸苷抑制机制的证据
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A chromosome survey of 1062 mentally retarded patients. Evaluation of a long-term study at the Rinnekoti institution, Finland.
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