Incidental identification of a cryptic complex chromosomal rearrangement in a male carrier by next-generation sequencing-based PGT: a case report
10.3760/cma.j.cn101441-20250227-00093
- VernacularTitle:基于二代测序的PGT技术偶然发现隐匿性复杂染色体重排男性携带者1例报道
- Author:
Jie DENG
1
;
Ning MA
;
Duo ZHOU
;
Huoniao WANG
;
Qiaomiao ZHOU
Author Information
1. 海南省妇女儿童医学中心医学遗传与产前诊断科，海口 570206
- Publication Type:Journal Article
- Keywords:
Preimplantation genetic testing;
Next-generation sequencing;
G banding;
Complex chromosome rearrangements;
High resolution
- From:
Chinese Journal of Reproduction and Contraception
2025;45(8):833-836
- CountryChina
- Language:Chinese
-
Abstract:
This study presents a case of a male carrier with a cryptic complex chromosomalrearrangement (CCR) incidentally identified by next-generation sequencing (NGS)-based preimplantation genetic testing (PGT), along with a literature review. The couple underwent PGT because of the male partner's known balanced translocation karyotype [46,XY,t(8;14)(p21;q13)]. Embryonic copy number variation (CNV) analysis unexpectedly revealed two distinct breakpoints on chromosome 8 in the male partner, suggesting additional structural abnormalities beyond the documented translocation. Modified high-resolution G-banding analysis of peripheral blood lymphocytes confirmed these findings. The male partner's high-resolution karyotype was ultimately characterized as 46,XY,der(8)inv(8)(p22q12.2)t(8;14)(p22;q21.3),der(14)t(8;14). The modified high-resolution G-banding technique demonstrated enhanced detection of cryptic CCRs, reducing diagnostic oversight. This case demonstrates that PGT analysis of abnormal embryonic CNV results can uncover previously undetected chromosomal abnormalities, thereby improving genetic counseling and reproductive decision-making.
