Risk evaluation and preimplantation genetic diagnosis in an infertile man with an unbalanced translocation t(10;15) resulting in a healthy baby

Excerpt

Balanced chromosome structural rearrangement, including reciprocal translocation, Robertsonian translocation and inversion, is an important cause of male infertility that results in azoospermia, oligozoospermia or asthenozoospermia [1]. Unbalanced translocation between two autosomes, which usually results in mental retardation or multiple congenital anomalies, is rare in infertile patients. To our knowledge, only the t(15;18) unbalanced translocation has been reported, in two healthy infertile brothers. Although fluorescence in situ hybridization (FISH) analysis showed that chromosomal normal sperms existed in their semen, these two brothers and their partners chose donor insemination rather than preimplantation genetic diagnosis (PGD) [2]. Whether patients with this kind of rare karyotype could deliver a healthy baby is unclear. …