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Translocation 21q22q in an infertile human male
  1. A C Chandley*,
  2. T B Hargreave†,
  3. J M Fletcher*
  1. *The MRC Clinical and Population Cytogenetics Unit, Edinburgh EH4 2XU.
  2. †Department of Surgery (Urology), Western General Hospital, the University of Edinburgh, Edinburgh EH4 2XU.†

    Abstract

    Details are given of a balanced 21q22q Robertsonian translocation ascertained through infertility in a phenotypically normal male. Chromosome analyses on the proband and his parents showed that the translocation arose as a new mutation. The patient was oligospermic and had a high frequency of morphological abnormalities in his spermatozoa. Meiotic investigations showed a chain trivalent in all primary spermatocytes examined at diakinesis/metaphase I. The testicular histology was normal.

    https://doi.org/10.1136/jmg.19.5.366

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