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Trisomy 8

Report of a mosaic human male with near-normal phenotype and normal IQ, ascertained through infertility

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Summary

Trisomy 8, in mosaic or non-mosaic form is an extremely rare chromosomal condition in man. Liveborn subjects usually present with mental retardation, bone and joint anomalies and a variety of other physical anomalies. The mental retardation associated with the condition is, however, usually moderate compared to that found in other viable human autosomal trisomic conditions. The present report describes a trisomy 8 mosaic male subject with normal IQ and near-normal phenotype, ascertained through infertility. Chromosome studies on peripheral blood lymphocytes reveal a pure trisomy 8 constitution; cultured skin fibroblasts show 46,XY/47,XY+8 mosaicism. At meiosis, the extra No. 8 chromosome is missing from the germ line. The testicular histology indicates a germ cell maturation arrest in many spermatocytes and the patient is severely oligospermic. Biochemical studies to assay levels of glutathione reductase, a red cell enzyme, the gene for which resides in chromosome 8, show increased levels in the trisomy 8 patient compared with controls.

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Author notes

  1. M. Soos

    Present address: Department of Clinical Biochemistry, Addenbrookes Hospital, Hills Road, CB2 2QR, Cambridge, England

Authors and Affiliations

  1. MRC Clinical and Population Cytogenetics Unit, Western General Hospital, EH4 2XU, Edinburgh, Scotland

    Ann C. Chandley, J. M. Fletcher, M. Soos, D. Axworthy & W. H. Price

  2. University of Edinburgh, Department of Surgery/Urology, Western General Hospital, EH4 2XU, Edinburgh, Scotland

    T. B. Hargreave

Authors
  1. Ann C. Chandley
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  2. T. B. Hargreave
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  3. J. M. Fletcher
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  4. M. Soos
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  5. D. Axworthy
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  6. W. H. Price
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Chandley, A.C., Hargreave, T.B., Fletcher, J.M. et al. Trisomy 8. Hum. Genet. 55, 31–38 (1980). https://doi.org/10.1007/BF00329123

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