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巴西智障人群中的脆性X染色体发生率

Fragile X frequency in a mentally retarded population in Brazil.

作者信息

Mingroni-Netto R C, Rosenberg C, Vianna-Morgante A M, Pavanello R de C

机构信息

Department of Biology, University of São Paulo, Brazil.

出版信息

Am J Med Genet. 1990 Jan;35(1):22-7. doi: 10.1002/ajmg.1320350106.

DOI:10.1002/ajmg.1320350106
PMID:2301469
Abstract

Seventy-five male and 50 female students from 2 special schools for mildly, moderately retarded, or borderline individuals were screened clinically and cytogenetically in order to estimate the contribution of fragile X [fra(X)] syndrome to the cause of mental retardation in Brazil. We found 6 males (8%) from 4 families and 2 unrelated females (4%) with fra(X) chromosomes. One male and one female were isolated cases. The estimated frequency of Martin-Bell [fra(X)] syndrome among mentally impaired individuals in Brazil was similar to that previously reported in other countries.

摘要

对来自两所针对轻度、中度智力迟钝或临界个体的特殊学校的75名男学生和50名女学生进行了临床和细胞遗传学筛查,以评估脆性X [fra(X)] 综合征对巴西智力迟钝病因的影响。我们发现4个家庭中有6名男性(8%)和2名无关女性(4%)带有fra(X) 染色体。一名男性和一名女性为散发病例。巴西智力受损个体中Martin-Bell [fra(X)] 综合征的估计发病率与其他国家先前报告的相似。

相似文献

1
Fragile X frequency in a mentally retarded population in Brazil.巴西智障人群中的脆性X染色体发生率
Am J Med Genet. 1990 Jan;35(1):22-7. doi: 10.1002/ajmg.1320350106.
2
The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers.一组有患病兄弟的中度智障男性中X连锁疾病的诊断与发病率
Am J Med Genet. 1983 Apr;14(4):713-24. doi: 10.1002/ajmg.1320140413.
3
X-linked mental retardation. I. Martin-Bell syndrome (report of 18 families).X连锁智力迟钝。I. 马丁-贝尔综合征(18个家庭的报告)
J Genet Hum. 1987 Dec;35(5):351-79.
4
The fragile X syndrome (Martin-Bell syndrome). Clinical and cytogenetic findings in 16 prepubertal boys and in 4 of their 5 families.脆性X综合征(马丁-贝尔综合征)。16名青春期前男孩及其5个家庭中4个家庭的临床和细胞遗传学发现。
Helv Paediatr Acta. 1985 Jul;40(2-3):133-52.
5
Genetics and expression of the fragile X syndrome.脆性X综合征的遗传学与表达
Ups J Med Sci Suppl. 1987;44:137-54.
6
Autism is not associated with the fragile X syndrome.
Am J Med Genet. 1989 Oct;34(2):187-93. doi: 10.1002/ajmg.1320340211.
7
The fragile X syndrome I: familial variation in the proportion of lymphocytes with the fragile site in males.脆性X综合征I:男性淋巴细胞中具有脆性位点的比例的家族性差异。
Am J Med Genet. 1984 Jan;17(1):241-52. doi: 10.1002/ajmg.1320170115.
8
Martin-Bell syndrome in Greece, with report of another 47,XXY fragile X patient.希腊的马丁-贝尔综合征,附另一例47,XXY脆性X患者的报告。
Am J Med Genet. 1988 Dec;31(4):735-9. doi: 10.1002/ajmg.1320310403.
9
10 years' experience in fragile X testing among mentally retarded individuals in Greece: a molecular and epidemiological approach.希腊智障人群脆性X检测的10年经验:分子与流行病学方法
In Vivo. 2008 Jul-Aug;22(4):451-5.
10
[Chromosomal characteristics of X-linked recessive mental retardation. I. The X chromosome].
Genetika. 1986 May;22(5):877-84.

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Fragile X syndrome: panoramic radiographic evaluation of dental anomalies, dental mineralization stage, and mandibular angle.脆性X综合征:牙齿异常、牙矿化阶段及下颌角的全景X线评估
J Appl Oral Sci. 2016 Sep-Oct;24(5):518-523. doi: 10.1590/1678-775720160170.
2
Fragile X syndrome among children with mental retardation.智力迟钝儿童中的脆性X综合征。
Indian J Pediatr. 1996 Jul-Aug;63(4):533-8. doi: 10.1007/BF02905729.
3
A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males.一种基于聚合酶链反应的检测方法,适用于对智力迟钝男性进行脆性X综合征筛查。
Hum Genet. 1996 Jun;97(6):808-12. doi: 10.1007/BF02346194.