Diagnosis of a case of complex chromosomal rearrangement by optical genome mapping
10.3760/cma.j.cn511374-20241025-00560
- VernacularTitle:运用光学基因组图谱技术诊断1例复杂染色体结构重排
- Author:
Xia YE
1
;
Xuzhuo ZHANG
1
;
Jingtian LU
1
;
Yanhong YU
1
;
Hong LI
1
;
Juan QIU
1
Author Information
1. 深圳市龙华区妇幼保健院产前诊断中心，深圳 518109
- Publication Type:Journal Article
- Keywords:
Structural chromosome abnormality;
Optical genome mapping;
Copy number variation;
Unbalanced chromosomal translocation
- From:
Chinese Journal of Medical Genetics
2025;42(6):747-750
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze a patient with infertility due to complex chromosome rearrangement by optical genome mapping (OGM).Methods:A female patient who was diagnosed with " primary infertility" at Shenzhen Longhua District Maternal and Child Health Care Hospital in April 2024 was selected as the study subject. Clinical data of the patient was collected. Chromosomal G banding karyotyping analysis was carried out for the patients and her parents, in addition with OGM and copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2023052504).Results:The patient, a 33-year-old female, had infertility for the past 5 years. OGM revealed formation of two derivative chromosomes through rearrangement of chromosomal 5 and 18. A loss of heterozygosity on chromosome 5 was also detected by OGM and CNV-seq techniques. Both of her parents had a normal karyotype.Conclusion:The OGM technique can refine the position of chromosome breakpoints and determine the direction and position of insertional fragment. Combined with karyotype analysis, the OGM can accurately determine the chromosomal karyotype of the patient and facilitate genetic counseling.
