摘要
性染色体异常是由性染色体病引起的一种常见遗传病,新生儿的发病率约为1/400~1/500,包括Klinefelter综合征(KS,47,XXY),特纳综合征(TS,45,X),超雄综合征(47,XYY),超雌综合征(47,XXX),其他各种类型嵌合体及多条额外性染色体,例如:48,XXXX甚至49,XXXXX。常见的X染色体结构异常包括易位,缺失,等位染色体和倒位。利用无创胎儿DNA检测技术(NIPT)可以检出性染色体异常,可以进一步预测胎儿结局,从而减少畸形儿的出生。目前与其他染色体疾病相比,性染色体的异常是少见的。而且NIPT对于13染色体,18染色体,21染色体非整倍体的检出较为准确,关于性染色体异常在此技术检出的研究并不是很多,两者之间的关系需要进一步研究,本文对此进行了综述。
Sex chromosome abnormality is a common genetic disorders caused by sex chromosome disease,the incidence of a disease of the newborn is about 1/400~1/500,including Klinefelter syndrome combinations(KS,47,XXY),Turner syndrome(TS,45,X),super male syndrome(47,XYY),estrogen syndrome(47,XXX),a variety of other types of Mosaic and multiple extra sex chromosomes,for example:48,49,XXXX even XXXXX.Sex chromosome structural abnormalities.Common X chromosome structural abnormalities include translocations,deletions,alleles,and inversions.Noninvasive fetal DNA testing(NIPT)can detect sex chromosomal abnormalities and further predict fetal outcome,thus reducing the birth of deformed babies.Sex chromosome abnormalities are rare compared with other chromosomal disorders.Moreover,NIPT is relatively accurate in the detection of aneuploidy of chromosome 13,18 and 21,and there are not many studies on the detection of sex chromosome abnormalities in this technique.The relationship between the two needs to be further studied,which is summarized in this paper.
作者
邬如燕
王晓华
WU Ru-yan;WANG Xiao-hua(Inner Mongolia Medical University,Hohhot 010030 China;Inner Mongolia Medical and Child Health Hospital,Hohhot 010010 China)
出处
《内蒙古医学杂志》
2019年第11期1304-1306,共3页
Inner Mongolia Medical Journal
