脆性X综合征：一个公共卫生问题。
Fragile X syndrome: a public health concern.
作者信息
Trusler S, Beatty-DeSana J
出版信息
Am J Public Health. 1985 Jul;75(7):771-2. doi: 10.2105/ajph.75.7.771.
Abstract
This study was designed to test for the fragile X syndrome [fra(X)] in institutionalized male patients with nonspecific mental retardation, referral patients, and relatives of fra(X) patients. Thirty-one of 91 (34.0 per cent) subjects tested were positive for the fra(X) chromosome; relatives had the largest percentage of positives. The data reflect the value of this test for detecting families having potential carriers who can benefit from genetic counseling.
摘要
本研究旨在检测收容机构中患有非特异性智力迟钝的男性患者、转诊患者以及脆性X综合征（fra(X)）患者亲属中的脆性X综合征[fra(X)]。91名受试对象中有31名（34.0%）fra(X)染色体检测呈阳性；亲属中的阳性比例最高。这些数据反映了该检测对于发现那些可从遗传咨询中受益的潜在携带者家庭的价值。
相似文献
1
Fragile X syndrome: a public health concern.脆性X综合征：一个公共卫生问题。
Am J Public Health. 1985 Jul;75(7):771-2. doi: 10.2105/ajph.75.7.771.
2
Institutional screening for the fragile X syndrome.脆性X综合征的机构筛查。
Am J Dis Child. 1988 Nov;142(11):1216-21. doi: 10.1001/archpedi.1988.02150110094028.
3
Fragile X mental retardation: prevalence in a group of institutionalized patients in Italy and description of a novel EEG pattern.
Am J Med Genet. 1986 Jan-Feb;23(1-2):589-95. doi: 10.1002/ajmg.1320230153.
4
Fragile X expression in normal and mentally retarded subjects: effect of treatment with an antifolic agent.
Am J Med Genet. 1988 May-Jun;30(1-2):369-76. doi: 10.1002/ajmg.1320300137.
5
Fragile X-linked mental retardation of macro-orchidism.脆性X连锁智力低下伴巨睾症
West J Med. 1982 Oct;137(4):278-81.
6
Absence of the fragile X in a group of patients with idiopathic mental retardation.一组特发性智力障碍患者中脆性X染色体缺失。
J Med Genet. 1983 Aug;20(4):314-5. doi: 10.1136/jmg.20.4.314-a.
7
Fragile X chromosome in institutionalized male adults with mental retardation.患有智力障碍的成年男性机构收容者中的脆性X染色体。
Keio J Med. 1989 Mar;38(1):36-9. doi: 10.2302/kjm.38.36.
8
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.
9
An important clinical approach in detecting the fragile X syndrome.检测脆性X综合征的一种重要临床方法。
Am J Public Health. 1985 Jul;75(7):715-6. doi: 10.2105/ajph.75.7.715.
10
Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile-X syndrome.对机构收容的智障患者进行临床和细胞遗传学调查，重点关注脆性X综合征。
J Intellect Disabil Res. 1993 Apr;37 ( Pt 2)(Pt 2):131-42. doi: 10.1111/j.1365-2788.1993.tb00580.x.
引用本文的文献
1
Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile-X syndrome.对机构收容的智障患者进行临床和细胞遗传学调查，重点关注脆性X综合征。
J Intellect Disabil Res. 1993 Apr;37 ( Pt 2)(Pt 2):131-42. doi: 10.1111/j.1365-2788.1993.tb00580.x.
2
An important clinical approach in detecting the fragile X syndrome.检测脆性X综合征的一种重要临床方法。
Am J Public Health. 1985 Jul;75(7):715-6. doi: 10.2105/ajph.75.7.715.
本文引用的文献
1
Chromosome preparations of leukocytes cultured from human peripheral blood.从人外周血培养的白细胞的染色体标本制备。
Exp Cell Res. 1960 Sep;20:613-6. doi: 10.1016/0014-4827(60)90138-5.
2
"Fragile" X chromosome: major link to mental retardation.
JAMA. 1981 Oct 9;246(15):1631-2.
3
X-linked mental retardation: a study of 7 families.X连锁智力迟钝：对7个家族的研究
Am J Med Genet. 1980;7(4):471-89. doi: 10.1002/ajmg.1320070408.
4
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.X连锁智力迟钝、巨睾症与Xq27脆性位点
J Pediatr. 1980 May;96(5):837-41. doi: 10.1016/s0022-3476(80)80552-x.
5
6
Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin.脆性X连锁智力障碍。对65例病因不明的智力障碍患者的调查。
Am J Dis Child. 1982 May;136(5):392-8.
7
Fragile X.
N Engl J Med. 1982 Jun 24;306(25):1551-2.
8
X-linked mental retardation with macro-orchidism and marker-X chromosomes.伴有巨睾症和标记X染色体的X连锁智力障碍
Am J Med Genet. 1980;7(4):433-41. doi: 10.1002/ajmg.1320070405.
9
Familial X-linked mental retardation with a marker X chromosome and its relationship to macro-orchidism.
Clin Genet. 1980 Feb;17(2):125-8. doi: 10.1111/j.1399-0004.1980.tb00120.x.
10
Fragile (X) expression: relationship to the cell cycle.脆性X表达：与细胞周期的关系
Hum Genet. 1984;67(1):99-102. doi: 10.1007/BF00270565.
Zotero 插件