关键词: X染色体, 核型分析, 性染色体畸变, 三体性, 特纳综合征, 嵌合体, 产前诊断, 神经认知障碍

Abstract: 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.

Key words: X chromosome, Karyotyping, Sex chromosome aberrations, Trisomy, Turner syndrome, Chimera, Prenatal diagnosis, Neurocognitive disorders