Analysis of complex chromosomal structural variants through optical genome mapping integrated with karyotyping.

ABSTRACT:

Background and objective

Parental chromosomal structural variations (SVs) represent a primary genetic factor contributing to recurrent spontaneous abortion (RSA). Individuals carrying SVs with complex chromosomal rearrangements (CCRs) typically exhibit a normal phenotype but are at an increased risk of miscarriage. Current standard clinical detection methods are insufficient for the identification and interpretation of all SV types, particularly complex and occult SVs, thereby presenting a significant challenge for clinical genetic counseling. Leveraging the high-resolution capabilities of optical genome mapping (OGM) technology, this study aims to rapidly and accurately identify complex SVs in RSA couples. Furthermore, it seeks to conduct an in-depth analysis of the genetic inform

SUBMITTER: Zhu X 

PROVIDER: S-EPMC12414755 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature