XXX综合征的研究进展cropped.docVIP

综 述XXX 综合征的研究进展47,潘思塑1综述 李 伟2审校( 1.伦敦帝国理工学院生物系 伦敦 SW7 2AZ 综 述 XXX 综合征的研究进展 47, 潘思塑1综述 李 伟2审校 ( 1.伦敦帝国理工学院生物系 伦敦 SW7 2AZ; 2.口腔生物医学工程教育部重点实验室, 四川大学 四川 成都 610041) [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。 [关键词] XXX 综合征; [中图分类号] Q754 性染色体异常; [文献标识码] A 遗传咨询 47, XXX Syndr ome and Its Genetic Counseling Methods PAN Si- su1, LI Wei2. （1. Division of Biology, Imperial College London, South Kensington Campus, London SW7 2AZ, United Kingdom; 2. Key. Laboratory of Oral Biomedical Engineering Ministry of Education, Sichuan University, Chengdu 610041, China） [Abstr act] 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 nondis- junctional 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 syn- drome is suggested to be associated with various diseases, but no significant evidence has shown the correlation be- tween them. Genetic counseling is usually given to the 47, XXX patients and their parents concerning about the po- tential developmental and medical risks of this syndrome. [Key wor ds] 47, XXX syndrome; sex chromosome abnormalities; genetic counseling 47, XXX 综合征属于性染色体非整倍体（sex chromosome aneuploids）的主要形式之一，本综合 征主要症状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。本文首先回顾了 XXX 综合征的产生原 因，列举了可能的综合征表现型特征，介绍了与 之相关的遗传咨询手段。 的另