Application of bionano optical mapping for the diagnosis of a 16p11.2-p12.2 microdeletion.
10.3760/cma.j.cn511374-20190906-00458
- VernacularTitle:基因组光学图谱技术在16p11.2-p12.2微缺失诊断的应用
- Author:
Peng DAI
1
;
Chaofeng ZHU
;
Ganye ZHAO
;
Xiangdong DONG
Author Information
1. Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxdtougao@163.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(10):1167-1171
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To delineate chromosomal aberration caused by structural chromosomal abnormalities with bionano optical mapping.
METHODS:Chromosomal karyotyping, bionano optical mapping and copy number variation sequencing (CNV-seq) were used to delineate the chromosomal aberration carried by a patient.
RESULTS:The patient was found to have an anomalous chromosome 16 by karyotyping analysis, which was verified by bionano optical mapping and CNV-seq as loss of heterozygosity at 16p11.2-p12.2.
CONCLUSION:Bionano optical mapping has provided a novel tool for the detection and diagnosis of structural chromosomal aberrations.
