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Karyotype with chromosomal abnormality with various inherited defects in the offspring (Recombination aneusomy)

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Summary

We report the case of a family with several dysmorphic and mentally retarded children. Giemsa banding showed a pericentric inversion of chromosome No. 5 in the father. This rearrangement can explain the birth of one child with typical and another with atypical cat-cry syndrome as due to recombination aneusomy.

Zusammenfassung

Wir beschreiben eine Familie mit mehreren dismorphischen und geistig zurückgebliebenen Kindern. Giemsafärbung des Karyotyps ergab beim Vater eine perizentrische Inversion des Chromosoms Nr. 5. Das erklärt durch “aneusomie de recombinaison” die Geburt eines Kindes mit “cri du chat” Syndrom und eines zweiten Kindes mit dem Syndrom “contre-type”.

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References

  • Dutrillaux, B., Lejeune, J.: Sur une nouvelle technique d'analyses du caryotype humain. C.R. Acad. Sci. (Paris). 272, 2638–2640 (1971)

    Google Scholar 

  • Grouchy, J. de: Aneusomie de recombinaison: Three further examples. Amer. J. hum. Genet. 18, 467–472 (1966)

    Google Scholar 

  • Lejeune, J., Berger, R.: Sur deux observations familiales de translocation complexes. Ann. Génét. 8, 21–25 (1965)

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  • Prieur, M., Dutrillaux, B., Lejeune, J.: Planches descriptives des chromosomes humains (Analyses en bandes R et nomenclature selon la conference de Paris 1971). 16, I, 39–46 (1973)

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Authors and Affiliations

  1. Faculté de Médecine de Strasbourg, Institut d'Embryologie, Strasbourg, Germany

    Stephanie Warter, Jean-Victor Ruch & Michel Lehmann

Authors
  1. Stephanie Warter
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  2. Jean-Victor Ruch
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  3. Michel Lehmann
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Warter, S., Ruch, JV. & Lehmann, M. Karyotype with chromosomal abnormality with various inherited defects in the offspring (Recombination aneusomy). Hum Genet 20, 355–359 (1973). https://doi.org/10.1007/BF00273339

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  • DOI: https://doi.org/10.1007/BF00273339

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