47,XXX综合征的研究进展

47,XXX综合征是女性中最常见的性染色体非整倍体疾病,表型多样且症状较轻,缺乏普遍的生理、心理异常特点,有些女性甚至还可以有正常的月经周期和生育能力。一直以来,47,XXX综合征虽然有较高的发病率,诊断率却只有10%左右。近年随着非侵入性产前基因筛查技术的开展与普及,越来越多的性染色体非整倍体疾病被筛查出来。为提高该疾病的诊断率和方便遗传咨询,亟需对47,XXX综合征有一个全面的理解,以便为患者和医者提供临床总结和诊疗指导。本文介绍47,XXX综合征形成机制、表型、行为和认知表现、神经成像特点、遗传学诊断及其研究进展。

Research Progress in 47, XXX Syndrome

47, XXX is the most common female sex chromosome aneuploidy. It is characterized by the diverse phenotypes, without universal abnormities in physiology and psychology. Some of 47, XXX women even possess normal menstrual cycle and fertility. Therefore, although the incidence of XXX syndrome is high, the diagnostic rate is only about 10%. With the recent introduction of noninvasive prenatal screening, more and more diseases of sex chromosome aneuploidy have been diagnosed. It is necessary to know more about 47, XXX syndrome, so as to improve the diagnostic rate and to provide the genetic counseling. Here, we discussed the 47,XXX Syndrome including the pathophysiological mechanism, physical and psychological phenotype, neuroimaging features, genetic diagnosis, as well as the research progress of 47, XXX syndrome.