Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization (original) (raw)

Abstract

In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome. In the ten patients, a microdeletion was demonstrated by in situ hybridization, but suspected only in two patients by high resolution banding.

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Authors and Affiliations

1. URA 620 CNRS, Institut Curie, 26, Rue d'Ulm, 05, Paris Cedex, France
   C. Desmaze, M. Prieur & A. Aurias
2. Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Norfolk Place, W2 1PG, London, UK
   P. Scambler & S. Halford
3. Service de Cardiologie Pédiatrique, Hôpital des Enfants Malades, 149, Rue de Sèvres, 15, Paris Cedex, France
   D. Sidi
4. INSERM U132, Hôpital des Enfants Malades, 149, Rue de Sèvres, 15, Paris Cedex, France
   F. Le Deist

Authors

1. C. Desmaze
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2. P. Scambler
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3. M. Prieur
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4. S. Halford
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5. D. Sidi
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6. F. Le Deist
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7. A. Aurias
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Desmaze, C., Scambler, P., Prieur, M. et al. Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.Hum Genet 90, 663–665 (1993). https://doi.org/10.1007/BF00202489

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• Received: 03 March 1992
• Revised: 01 July 1992
• Issue Date: February 1993
• DOI: https://doi.org/10.1007/BF00202489

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