Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B (original) (raw)

Summary

We report a previously undescribed case of a de novo balanced translocation t(5;13)(q11;p11) and Franceschetti syndrome in a 3-year-old girl. The hypothesis that this unusual association might not be coincidental but rather due to position effect is proposed. Moreover the significant decrease of hexosaminidase B activity suggests the localization of this gene on the 5q11 band.

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Authors and Affiliations

1. Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, F-13385, Marseille Cedex 5, France
   P. Balestrazzi (resident geneticist), M. A. Baeteman, M. G. Mattei & J. F. Mattei
2. INSERM Unité 242, Hôpital d'Enfants de la Timone, F-13385, Marseille Cedex 5, France
   P. Balestrazzi (resident geneticist), M. A. Baeteman, M. G. Mattei & J. F. Mattei

Authors

1. P. Balestrazzi
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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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Balestrazzi, P., Baeteman, M.A., Mattei, M.G. et al. Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B.Hum Genet 64, 305–308 (1983). https://doi.org/10.1007/BF00279420

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• Received: 15 March 1983
• Revised: 14 May 1983
• Issue Date: September 1983
• DOI: https://doi.org/10.1007/BF00279420

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