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X/Y translocation in a family with Leri-Weill dyschondrosteosis

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Abstract

An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each for SHOX and SRY was detected on the normal Y chromosome in the proband.

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Authors and Affiliations

  1. Dip. Scienze Biomediche, Sezione di Genetica Medica, Università di Chieti, and Servizio Genetica Medica, Ospedale Civ., Pescara, Italy, Italy

    G. Calabrese, L. Stuppia, F. Capodiferro & G. Palka

  2. Azienda Ospedaliera "Di Venere" e "Giovanni XXIII", Sezione di Genetica Medica, Bari, Italy, Italy

    R. Fischetto

  3. CSS Mendel, Roma, Italy, Italy

    R. Mingarelli

  4. Clinica Ostetrica e Ginecologica, Università di Bari, Italy, Italy

    F. Causio

  5. Istituto di Genetica, Università di Bari, Italy, Italy

    M. Rocchi

  6. Institute für Human Genetik, University of Heidelberg, Germany, Germany

    G.A. Rappold

Authors
  1. G. Calabrese
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  2. R. Fischetto
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  3. L. Stuppia
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  4. F. Capodiferro
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  5. R. Mingarelli
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  6. F. Causio
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  7. M. Rocchi
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  8. G.A. Rappold
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  9. G. Palka
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Calabrese, G., Fischetto, R., Stuppia, L. et al. X/Y translocation in a family with Leri-Weill dyschondrosteosis. Hum Genet 105, 367–368 (1999). https://doi.org/10.1007/s004399900113

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  • DOI: https://doi.org/10.1007/s004399900113

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