Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.

ABSTRACT:

Background

Balanced reciprocal translocation is one of the most common chromosomal abnormalities in humans that may lead to infertility, recurrent pregnancy loss, or having children with physical or mental abnormalities. Karyotyping and FISH are traditional detection approaches with a low resolution. Bionano optical genome mapping (OGM) developed in recent years can be used to analyze chromosomal abnormalities at a higher resolution, providing the possibility of more in-depth analyses of balanced chromosome translocations.

Methods

To evaluate the feasibility of OGM to detect chromosome balanced translocations, 10 genetic outpatients were collected and detected simultaneously by karyotype analysis, FISH, CNV-seq, and Bionano OGM in this study.

Results

The results showe

SUBMITTER: Dai P 

PROVIDER: S-EPMC9184658 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature