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论文摘要

47,XXX综合征的研究进展

47, XXX Syndrome and Its Genetic Counseling Methods

作者:潘思塑1综述 李伟2审校

Author:PAN Si- su1, LI Wei2.

收稿日期:2006-10-11          年卷(期)页码:2007,34(02):77-80

期刊名称:国际口腔医学杂志

Journal Name:International Journal of Stomatology

关键字:XXX综合征,性染色体异常,遗传咨询,

Key words:47, XXX syndrome,sex chromosome abnormalities,genetic counseling,

基金项目:

中文摘要

XXX 综合征属于性染色体非整倍体的主要形式之一。XXX 综合征系患者体细胞核中有一额外的X染色体( 染色体核型: 47, XXX) 。由于大部分患者缺乏明显的表现型特征, 造成本综合征有相当大的鉴别难度。本文对XXX 综合征的病因, 可能的表现型特征及相关的遗传咨询手段作一综述。

英文摘要

The cause and the phenotypes of 47, XXX syndrome are discussed. XXX syndrome majorly derives from the maternal nondisjunctional errors during meiosis I or II, while 46, XX/47, XXX mosaic are caused by the nondisjunctional errors in zygotic mitosis during early embryonic development. Unlike other sex chromosome aneuploidy, there are no characteristic physical features for triple X patients. They are always female, usually taller than average in height, normal or delayed intelligent development, mostly fertile with no specific medical problems. 47, XXX syndrome is suggested to be associated with various diseases, but no significant evidence has shown the correlation between them. Genetic counseling is usually given to the 47, XXX patients and their parents concerning about the potential developmental and medical risks of this syndrome.

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