Pericentric inversion in chromosome 2 and their fertility issues: three cases report and literature review.

OBJECTIVES

Genetic counseling remains challenging for carriers of chromosomal inversions due to variable reproductive outcomes. This study aims to characterize the clinical features of three male carriers with chromosome 2 inversion.

METHODS

All participants underwent comprehensive assessment, including karyotype analysis and semen examination. Relevant cases were retrieved via PubMed, and candidate genes at chromosome 2 breakpoints were analyzed.

RESULTS

xCytogenetic analysis identified three karyotypes: 46,XY,inv(2)(p15q13), 46,XY,inv(2)(p13q11), and 46,XY,inv(2)(p11.2q13). A total of 22 previously reported cases were included for comparative analysis. inv(2)(p11q13) and inv(2)(p11.2q13) were the most prevalent karyotypes. Breakpoints at 2p11, 2p11.2, and 2q13 appeared to have minimal impact on spermatogenesis, while breakpoints at 2p13 and 2q11 may impair spermatogenesis by disrupting the structure and function of relevant genes located at 2p23, 2p13, 2q11, and 2q33.

CONCLUSIONS

Detailed characterization of inversion breakpoints is essential for providing precise genetic counseling to carriers of chromosome 2 inversion.