Microdeletion and microduplication syndromes, including recurrent rearrangements at 16p11.2 and 22q11.21, are enriched in unexplained male infertility.

For: All,

This study found that some men with a 16p11.2 deletion or duplication have a higher chance of fertility challenges, often linked to differences in testicular development, highlighting the importance of genetic testing and counseling to help families with 16p11.2 better understand future reproductive health and family‑planning options.