Skip to main content
SpringerLink
Log in

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

  • Short Communications
  • Published:
Human Genetics Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Carey AH, Roach S, Williamson R, Dumanski JP, Nordenskjold M, Collins VP, Rouleau G, Blin N, Jalbert P, Scambler PJ (1990) Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der 22 syndrome. Genomics 7:299–306

    Google Scholar 

  • Couly G, Lagrue A, Griscelli C (1983) Le syndrome de DiGeorge, neurocristopathie rhombencéphalique exemplaire. Rev Stomatol Chir Maxillofac 84:103–108

    Google Scholar 

  • Desmaze C, Deleuze JF, Dutrillaux AM, Thomas G, Hadchouel M, Aurias A (1992) Screening of microdeletions of chromosome 20 in patients with Alagille syndrome. J Med Genet 29:233–235

    Google Scholar 

  • Driscoll DA, Budarf M, McDermid H, Emanuel BS (1990) Molecular analysis of DiGeorge syndrome: 22q11 interstitial deletions. Am J Hum Genet 47:A215

    Google Scholar 

  • Driscoll DA, Budarf ML, Emanuel BS (1991) Mapping the critical region in DiGeorge syndrome. Am J Hum Genet 49:A86

    Google Scholar 

  • Fibison WJ, Budarf M, McDermid H, Greenberg F, Emanuel BS (1990) Molecular studies of DiGeorge syndrome. Am J Hum Genet 46:888–895

    Google Scholar 

  • Lammer EJ, Opitz JM (1986) The DiGeorge anomaly as a developmental field defect. Am J Med Genet [Suppl] 2:113–127

    Google Scholar 

  • Müller W, Peter HH, Wilken M, Jüppner H, Kallfelz HC, Krohn HP, Miller K, Rieger CHL (1988) The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome. Eur J Pediatr 147:496–502

    Google Scholar 

  • Scambler PJ, Carey AH, Wyse RKH, Roach S, Dumanski JP, Nordenskjold M, Williamson R (1991) Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 10:201–206

    Google Scholar 

Download references

Author information

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
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. P. Scambler
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. Prieur
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S. Halford
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. D. Sidi
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. F. Le Deist
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. A. Aurias
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00202489

Keywords

Search

Navigation