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Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

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Summary

We report male and female siblings with extreme microcephaly and mental retardation, growth retardation, and multiple chromosome mosaicism. Mental retardation associated with chromosome mosaicism does not always carry a low recurrence risk.

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Authors and Affiliations

  1. Duncan Guthrie Institute of Medical Genetics, University Department of Medical Genetics, Yorkhill Hospitals, G3 8SJ, Glasgow, UK

    J. L. Tolmie, E. Boyd, P. Batstone, M. E. Ferguson-Smith & J. M. Connor

  2. Department of Paediatrics, Glasgow Royal Maternity Hospital, Glasgow, UK

    L. Al Roomi

Authors
  1. J. L. Tolmie
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  2. E. Boyd
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  3. P. Batstone
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  4. M. E. Ferguson-Smith
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  5. L. Al Roomi
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  6. J. M. Connor
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Tolmie, J.L., Boyd, E., Batstone, P. et al. Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?. Hum Genet 80, 197–200 (1988). https://doi.org/10.1007/BF00702872

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  • DOI: https://doi.org/10.1007/BF00702872

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