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Trisomy 21 for the region 21q223: Identification by high-resolution R-banding patterns

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Summary

Use of high resolution R-banding patterns led to the identification of partial trisomy 21 involving the sub-band 21q223 in a 4-year-old girl. Despite the dissociation of certain clinical features, the phenotypic signs, especially dysmorphism and encephalopathy, were highly suggestive of trisomy 21. Superoxide dismutase A activity was found to be in the normal range.

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Authors and Affiliations

  1. Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, F-13385, Marseille Cedex 4, France

    J. F. Mattei, M. G. Mattei, M. A. Baeteman & F. Giraud

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  1. J. F. Mattei
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  2. M. G. Mattei
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  3. M. A. Baeteman
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  4. F. Giraud
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Supported by grants from I.N.S.E.R.M. (A.T.P. 79-110)

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Mattei, J.F., Mattei, M.G., Baeteman, M.A. et al. Trisomy 21 for the region 21q223: Identification by high-resolution R-banding patterns. Hum Genet 56, 409–411 (1981). https://doi.org/10.1007/BF00274703

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  • DOI: https://doi.org/10.1007/BF00274703

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