Invention Grant
- Patent Title: Method capable of differentiating fetal sex and fetal sex chromosome abnormality on various platforms
-
Application No.: US15750002Application Date: 2016-08-08
-
Publication No.: US11339426B2Publication Date: 2022-05-24
- Inventor: Chang Hyuk Kwon , Seon Young Yun , Min Seob Lee
- Applicant: EONE DIAGNOMICS GENOME CENTER CO., LTD.
- Applicant Address: KR Incheon
- Assignee: EONE DIAGNOMICS GENOME CENTER CO., LTD.
- Current Assignee: EONE DIAGNOMICS GENOME CENTER CO., LTD.
- Current Assignee Address: KR Incheon
- Agency: Levenfeld Pearlstein, LLC
- Priority: KR10-2015-0111221 20150806
- International Application: PCT/KR2016/008679 WO 20160808
- International Announcement: WO2017/023148 WO 20170209
- Main IPC: C12Q1/6869
- IPC: C12Q1/6869 ; G16B40/00 ; G16B20/10 ; G16B20/00 ; G16B30/00 ; C12Q1/6876 ; C12Q1/6879

Abstract:
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.
Public/Granted literature
Information query