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Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations

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Abstract

Three patients with partial monosomy of the long arm of chromosome 21 are reported. Each one presents several features of a 21q—syndrome but in cases 2 and 3, other chromosomes are involved, contributing to the variability of the clinical picture. Synthesis of clinical, enzymatic and cytogenetic findings confirms that the superoxide dismutase A (SOD-A) locus is in sub-band 21q22-1. However, it is not possible to localize precisely the segments responsible for the different clinical features of 21q — syndrome.

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Authors and Affiliations

  1. Centre de Génétique Médicale and INSERM U. 242, Hôpital d'Enfants de la Timone, 13385, Marseille Cedex 5, France

    N. Philip, M. A. Baeteman, M. G. Mattei & J. F. Mattei

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  1. N. Philip
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  2. M. A. Baeteman
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  3. M. G. Mattei
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  4. J. F. Mattei
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Philip, N., Baeteman, M.A., Mattei, M.G. et al. Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations. Eur J Pediatr 142, 61–64 (1984). https://doi.org/10.1007/BF00442594

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  • DOI: https://doi.org/10.1007/BF00442594

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