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Two cases of trisomy 21 and one XXY case with atypical clinical features

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Summary

Three patients with mental retardation and multiple congenital abnormalities are described.

Although their clinical appearance was not suggestive of Down's syndrome, chromosome studies showed a non-disjunctional trisomy 21 in two of the patients. The third case had an unsuspected XXY karyotype.

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References

  • Seabright, M.: A rapid banding technique for human chromosomes. Lancet 1971 II, 971–972

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Authors and Affiliations

  1. The Wessex Regional Cytogenetics Unit, General Hospital, Salisbury

    Anne Hobbs, Marina Seabright & Sarah Mould

  2. the Medical School, University of Southampton, UK

    Anne Hobbs, Marina Seabright & Sarah Mould

Authors
  1. Anne Hobbs
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  2. Marina Seabright
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  3. Sarah Mould
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Hobbs, A., Seabright, M. & Mould, S. Two cases of trisomy 21 and one XXY case with atypical clinical features. Hum Genet 38, 239–244 (1977). https://doi.org/10.1007/BF00527410

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  • DOI: https://doi.org/10.1007/BF00527410

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