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Sex chromosomal and autosomal aneuploidy in the fragile X syndrome.

作者信息

Chudley A E

机构信息

Section of Clinical Genetics, Children's Hospital, Winnipeg, Manitoba, Canada.

出版信息

Birth Defects Orig Artic Ser. 1990;26(4):257-65.

PMID:2090324
Abstract

To date, the evidence to establish the association between aneuploidy and fragile sites, albeit thought-provoking, has been anecdotal and for the most part hypothetical. Studies with larger sample size and the use of RFLP analyses to establish parental origin of aneuploid states will undoubtedly resolve the issue. If an association between aneuploidy and fragile X and fragile site families is proved, this would have substantial impact on the counseling and management of these families. A confirmed association would direct investigators to determine common underlying biological factors leading to meiotic and mitotic nondisjunction.

摘要

相似文献

1
Sex chromosomal and autosomal aneuploidy in the fragile X syndrome.
Birth Defects Orig Artic Ser. 1990;26(4):257-65.
2
Two brothers with mental retardation discordant for the fragile-X syndrome.
Am J Med Genet. 1990 May;36(1):122-5. doi: 10.1002/ajmg.1320360124.
3
Occurrence of aneuploidy for the X chromosome in over 1,300 unrelated specimens screened for the fragile X chromosome.
Am J Med Genet. 1994 Jul 15;51(4):452-3. doi: 10.1002/ajmg.1320510430.
4
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.
5
A systematic cytogenetic study of a population of 1170 mentally retarded and/or behaviourly disturbed patients including fragile X-screening. The Hondsberg experience.对1170名智力迟钝和/或行为障碍患者进行的系统细胞遗传学研究,包括脆性X筛查。洪兹贝格经验。
J Genet Hum. 1988 Dec;36(5):425-46.
6
[X-linked mental retardation, macro-orchism, and X chromosome fragile site. Presentation of 6 cases in 2 families].[X连锁智力迟钝、巨睾症与X染色体脆性位点。2个家族中6例病例报告]
An Esp Pediatr. 1982 Dec;17(6):466-74.
7
Fragile X syndrome: a common etiology of mental retardation.脆性X综合征:智力障碍的常见病因。
Am J Ment Defic. 1987 Mar;91(5):445-9.
8
[The 47,XXX syndrome in a family with the fragile X chromosome syndrome].[一个患有脆性X染色体综合征的家族中的47,XXX综合征]
Cas Lek Cesk. 1985 Aug 2;124(31):988-91.
9
Expression of the autosomal folate-sensitive fragile sites in ten kindreds with Martin-Bell syndrome.
Ann Genet. 1986;29(1):59-61.
10
[Sex-related neurologic diseases. Familial X-linked mental retardation with a fragile X marker. Study of 8 families].[与性别相关的神经系统疾病。伴有脆性X标记的家族性X连锁智力迟钝。对8个家族的研究]
An Esp Pediatr. 1984 Oct;21 Suppl 20:54-7.

引用本文的文献

1
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.伴有和不伴有自闭症谱系障碍的脆性X综合征的二级医学诊断。
Am J Med Genet A. 2008 Aug 1;146A(15):1911-6. doi: 10.1002/ajmg.a.32290.
2
45,X/46,XY mosaicism and fragile X syndrome.45,X/46,XY嵌合体与脆性X综合征。
Am J Med Genet A. 2003 Jan 1;116A(1):99-100. doi: 10.1002/ajmg.a.10006.