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Translocation d'une partie des bras longs d'un chromosome 5 sur les bras longs d'un chromosome du groupe D (Bq-, Dq+) chez un enfant et sa mère

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Abstract

An autosomal translocation Bq-, Dq+ diagnosed in a girl and her mother is reported.

The proband and her mother present similary phenotypical abnormalities: round face, low set ears, hypertelorism, upper lip circumflex formed.

The girl shows in addition an important psychomotive retardation which may be explained by one of the following factors: a postnatal meningeal hemorrhage the low I. Q. of both parents the possibility of an aneusomy of recombination during meiosis in mother.

Résumé

L'étude du caryotype d'un enfant polymalformé a montré un remaniement (Bq-, Dq+). Cette translocation a été retrouvée chez la mère de la proposante. L'étude des phénotypes correspondant à cette anomalie chromosomique et son mode de transmission seront discutés dans cette note.

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Bibliographie

  1. Lejeune, J.: Le caryotype humains normal In R. Turpin et J. Lejeune: Les chromosomes humains, p. 58. Paris: Gauthier-Villars 1965.

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  2. — et R. Berger: Sur deux observations familiales de translocations complexes. Ann. Génét. 8, 21 (1965).

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Authors and Affiliations

  1. Hôpital Civil de Haguenau Médecine Infantile, Service B, France

    P. Beauvais

  2. Institut d'Embryologie de la Faculté de Médecine de Strasbourg, Strasbourg, France

    Y. Rumpler &  J. V. Ruch

Authors
  1. P. Beauvais
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  2. Y. Rumpler
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  3. J. V. Ruch
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Beauvais, P., Rumpler, Y. & Ruch, J.V. Translocation d'une partie des bras longs d'un chromosome 5 sur les bras longs d'un chromosome du groupe D (Bq-, Dq+) chez un enfant et sa mère. Hum Genet 4, 166–173 (1967). https://doi.org/10.1007/BF00291261

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  • DOI: https://doi.org/10.1007/BF00291261

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