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Keywords:

  • DNA fingerprinting;
  • Down syndrome;
  • male fertility;
  • minisatellites

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.