Identification of cryptic structural chromosomal aberrations in parents through detection of copy number variations in miscarriage tissues
10.3760/cma.j.issn.1003-9406.2019.11.017
- VernacularTitle: 流产组织拷贝数变异检测在亲代隐匿性染色体结构异常精准定位中的应用
- Author:
Yanhui ZHAO
1
;
Hong PANG
;
Shuaishuai GUO
;
Zhaoxia CHENG
;
Jianhua SUN
;
Chong LAN
;
Yan ZHAO
;
Ru SUN
;
Meng ZHANG
;
Tingting FAN
;
Xiaojie YAN
Author Information
1. Shenyang Women and Children’s Hospital, Shenyang, Liaoning 110011, China
- Publication Type:Clinical Trail
- Keywords:
Next generation sequencing;
Copy number variation;
Balanced chromosomal translocation;
Supernumerary marker chromosome
- From:
Chinese Journal of Medical Genetics
2019;36(11):1123-1126
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).
Methods:NGS technique was used to detect CNVs in abortion tissues. Parental chromosomal karyotypes were predicted based on the results. The aberrant chromosomal segments of the parents were accurately mapped by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH).
Results:In addition to numerical chromosomal aberrations, 12 microdeletion/microduplications were detected by NGS. For 8 families where both parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities were identified. One marker chromosome was missed by karyotyping analysis, and a mother was confirmed to carry a cryptic balanced translocation by FISH.
Conclusion:NGS can facilitate detection of cryptic chromosomal translocations in couples with repeated pregnancy failure and is of great value for detecting abnormal CNVs for its high sensitivity.
