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Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers

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Summary

A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incorporation and acridine organge staining. The reproductive impairment of balanced X/autosome translocations is discussed.

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Authors and Affiliations

  1. Clinique de Génétique Médicale, Hôpital des Enfants-Malades, F-75730, Paris Cedex 15, France

    Catherine Turleau, Françoise Chavin-Colin & J. de Grouchy

  2. Unité de Recherche I.N.S.E.R.M., Hôpital des Enfants-Malades, F-75730, Paris Cedex 15, France

    Catherine Turleau, Françoise Chavin-Colin & J. de Grouchy

  3. Hôpital Trousseau, Paris, France

    G. Repessé & P. Beauvais

Authors
  1. Catherine Turleau
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  2. Françoise Chavin-Colin
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  3. J. de Grouchy
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  4. G. Repessé
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  5. P. Beauvais
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Turleau, C., Chavin-Colin, F., de Grouchy, J. et al. Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers. Hum Genet 37, 97–104 (1977). https://doi.org/10.1007/BF00293779

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  • DOI: https://doi.org/10.1007/BF00293779

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