Abstract:

The complex chromosomal rearrangement (CCR) is a group of rare structural abnormalities involving at least three breakpoints on two or more chromosomes, being frequently associated with reproductive failure. We report a case of male infertility involving a complex translocation of seven chromosomes. Karyotype analysis revealed 46,XY,t(1;2)(p33;q34),t(3;21;4)(q13.1;q21;q13),t(13;15)(q31;q14). Genomic copy number variation analysis did not show any significant abnormalities. Normal parental karyotypes indicated a de novo variant. Following three unsuccessful cycles of preimplantation genetic testing for aneuploidy, no transferable blastocysts were obtained. Ultimately, a successful pregnancy resulting in a live birth was achieved through donor sperm in vitro fertilization and embryo transfer. This case underscores that the carrier of ultra-complex CCR should receive comprehensive genetic counseling, be fully informed of the prognoses associated with different assisted reproductive strategies, and be provided with psychological support when facing treatment failure or considering donor gamete options. Furthermore, this case contributes a novel category of ultra-complex CCR to the human cytogenetic database.

Key words: Infertility, male, Gene rearrangement, Chromosome aberrations, Karyotyping, Genetic counseling, Fertilization in vitro