Down syndrome and male fertility: PCR‐derived fingerprinting, serological and andrological investigations

Abstract

Down syndrome, the most common birth defect causing mental retardation, is characterized by a specific phenotype including subfertility or sterility and hypogonadism in males. In contrast, several females with Down syndrome have borne offspring. Here, a male with trisomy 21 fathering an infant is described. This observation is verified by serological markers, DNA fingerprinting using different DNA micro- or minisatellites and andrological investigations.