首页> 外国专利> NOVEL METHOD CAPABLE OF DIFFERENTIATING FETAL SEX AND FETAL SEX CHROMOSOME ABNORMALITY ON VARIOUS PLATFORMS

NOVEL METHOD CAPABLE OF DIFFERENTIATING FETAL SEX AND FETAL SEX CHROMOSOME ABNORMALITY ON VARIOUS PLATFORMS

机译:区分各种平台上的胎儿性别和胎儿性别染色体异常的新颖方法

摘要

The present invention relates to a method capable of, in order to diagnose fetal sex chromosome aneuploidy, differentiating Kleinfeiter's syndrome (XXY), triple X syndrome (XXX), and Turner's syndrome (monosomy X, XO) as well as male (XY) and female (XX) by using copy number variation (CNV). The differentiation method according to the present invention has significantly high sensitivity and accuracy since the reference line is evenly adjusted by performing normalization regardless of the kinds of platform and data. The present invention is useful in diagnosing the sex chromosome abnormality at an early stage through easy diagnosis of sex chromosomes X and Y, which are hard to diagnose, since an analysis is possible even with a small amount of fetal chromosomes, which corresponds to an advantage of noninvasive prenatal diagnosis, and copies are redundant.
机译:本发明涉及一种能够诊断胎儿性染色体非整倍性的方法,该方法可以区分Kleinfeiter综合症(XXY),Triple X综合症(XXX)和Turner氏综合症(X染色体,XO)以及男性(XY)和雌性(XX)通过使用拷贝数变异(CNV)。根据本发明的微分方法具有极高的灵敏度和准确性,因为无论平台和数据的种类如何,都可以通过执行标准化来均匀地调整参考线。通过容易地诊断难以诊断的性染色体X和Y,本发明可用于早期诊断性染色体异常,这是因为即使少量的胎儿染色体也可以进行分析,这具有优势。无创性产前诊断,并且副本是多余的。

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