Azoospermia in a man with a constitutional ring 22 chromosome.

  title={Azoospermia in a man with a constitutional ring 22 chromosome.},
  author={Daniela Zuccarello and Bruno Dallapiccola and Antonio Novelli and C Foresta},
  journal={European journal of medical genetics},
  volume={53 6},
A mosaic ring chromosome 22 (mos 46,XY,r(22)[93]/45,XY,-22[7]) was found in an euploid azoospermic otherwise phenotypically normal individual. Testicular cytological analysis showed hypospermatogenesis with a complete spermatogonial arrest. The majority of subjects with constitutional r(22) are dysmorphic and mentally retarded due to deletion of a sizable segment of the chromosome 22q. Only a few cases of r(22) chromosome are known in which deletion of the very distal telomeric regions is… CONTINUE READING
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