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


4 Institut für Humangenetik, Gosslerst. 12 d, D-37073 Göttingen, Germany


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.