47,XXX综合征研究进展

Development of research on 47,XXX Syndrome

本文讨论了47,XXX综合征的起因及其表现型。XXX综合征主要是由第一次和第二次减数分裂时的母方染色体不分离错误(Maternal nondisjunctional error)导致的。与其他性染色体非整倍体不同,XXX核型的患者并没有显著的身体特征。患者呈女性,通常高于平均身高,智力发展水平正常或有延滞,大部分人有生育能力且无特定的生理问题。47,XXX综合征与许多疾病存在着可能的联系,但是并没有显著的证据能够支持这些联系。47,XXX综合征患者家长通常会被给予有关患者发育及医学方面隐患的遗传咨询。

The cause and the phenotypea of 47, XXX syndrome are discussed. XXX syndrome majorly derives from the maternal nondisjunctional errors during meiosis I or II. Unlike other sex chromosome aneuploidy, there are no general 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.