Robertsonian translocation (13;14) and its clinical manifestations: a literature review

Robertsonian translocations between chromosomes 13 and 14 (rob[13;14]) are associated with some clinical manifestations, including male infertility and recurrent pregnancy loss (RPL). In this review, the clinical features associated with rob(13;14) translocation are discussed and the incidence rate of rob(13;14) translocation in cytogenetic surveys conducted on infertile males and couples who have experienced RPL compared with the incidence rate in newborns. To this purpose, a total of 30 cases of rob(13;14) translocation showing phenotypic manifestations were re-screened and the equal number of studies (n = 15) that reported chromosome analysis results in infertile men and couples who have experienced RPL were reviewed. The cases reviewed showed that the prominent clinical features associated with rob(13;14) translocation were global developmental delay (GDD), facial dysmorphism, early puberty and undescended testes. Cytogenetic surveys conducted on infertile men and couples who have experienced RPL showed that the proportion of rob(13;14) carriers was two to 25 times higher in infertile men and four to 17 times higher in couples who have experience RPL, compared with the proportion reported in newborns. The reviewed studies revealed that rob(13;14) translocation was consistently associated with some important clinical features; however, the delineation of the causal relationship between rob(13;14) translocation and associated clinical features requires studies to use gene-level approaches.