The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis,...

Area of Science:

• Genetics
• Genomics
• Reproductive Medicine

Background:

• Precise genomic mapping of balanced chromosomal abnormalities is challenging due to repetitive DNA and high variability at breakpoints.
• These challenges impact genetic counseling for individuals with impaired fertility or specific clinical phenotypes.

Purpose of the Study:

• To present a comprehensive cytogenomic approach for accurate breakpoint mapping of a rare paracentric inversion on chromosome 10q.
• To investigate the genetic basis of impaired fertility in a patient with oligoasthenoteratozoospermia and necrozoospermia.

Main Methods:

• Multicolor banding (MCB)
• Chromosomal microarray analysis (CMA)
• Chromosome microdissection with reverse painting
• Single-copy sequencing

Main Results:

• A rare paracentric inversion of 19.251 Mbp on chromosome 10q (10q22.2q23.3) was precisely mapped.
• Breakpoint locations were predicted using the hg38 human genome assembly.
• No genetic imbalance was detected at the breakpoints.

Conclusions:

• The developed cytogenomic approach enables accurate breakpoint mapping in complex chromosomal rearrangements.
• Effective genetic counseling for couples with balanced chromosome rearrangements and reproductive failure is essential.
• Addressing challenges posed by repetitive DNA and genomic variability is key for improved cytogenomic assessments.