Pathogenesis-Clinical-Epidemiology

Down syndrome critical region around D21S55 on proximal 21q22.3

  1. Zohra Rahmani1,
  2. Jean-Louis Blouin1,
  3. Nicole Créau-Goldberg2,
  4. Paul C. Watkins7,
  5. Jean-François Mattei5,
  6. Marc Poissonnier3,6,
  7. Marguerite Prieur1,
  8. Zoubida Chettouh1,
  9. Annie Nicole1,
  10. Alain Aurias4,
  11. Pierre-Marie Sinet1,*,
  12. Jean-Maurice Delabar1

Article first published online: 3 JUN 2005

DOI: 10.1002/ajmg.1320370720

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Supplement: Trisomy 21 (Down Syndrome)

Volume 37, Issue Supplement S7, pages 98–103, 1990

Additional Information

How to Cite

Rahmani, Z., Blouin, J.-L., Créau-Goldberg, N., Watkins, P. C., Mattei, J.-F., Poissonnier, M., Prieur, M., Chettouh, Z., Nicole, A., Aurias, A., Sinet, P.-M. and Delabar, J.-M. (1990), Down syndrome critical region around D21S55 on proximal 21q22.3. Am. J. Med. Genet., 37: 98–103. doi: 10.1002/ajmg.1320370720

Author Information

  1. 1

    URA CNRS 1335, Laboratoire de Biochimie Génétique, Paris, France

  2. 2

    U173 INSERM (N.C.G), Hôpital Necker-Enfants Malades, Paris, France

  3. 3

    Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France

  4. 4

    URA CNRS 620, Institut Curie, Paris, France

  5. 5

    INSERM U242, Centre de Génétique Médicale, Hǒpital d'Enfants de la Timone, Marseille, France

  6. 6

    Institut d'Hématologie de Versailles, CNTS Versailles, France

  7. 7

    Integrated Genetics Inc., Framingham, Massachusettes

*URA 1335 CNRS, Laboratoire de Biochimie Génétique, Hǒpital Necker-Enfants Malades, 149, rue de Sèvres, 75743-Paris, Cedex 15, France

Publication History

  1. Issue published online: 22 JUN 2010
  2. Article first published online: 3 JUN 2005
  3. Manuscript Revised: 24 JAN 1990
  4. Manuscript Received: 13 JUL 1989

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Keywords:

  • trisomy 21;
  • chromosome 21;
  • Down syndrome chromosomal region (DSCR)

Abstract

We have analysed the DNA of 2 patients with many manifestations of Down syndrome and partial duplication of distinct regions of chromosome 21, respectively, q11.205→q22.300 and q22.300→qter (Rahmani et al.: Proceedings of the National Academy of Sciences of the United States of America 86:5958–5962, 1989). Assessment of the copy number of five chromosome 21 sequences (SODI, D21S17, D21S55, ETS2, and D21S15) has shown that D21S55 was duplicated in both cases. The size of the common duplicated region can be estimated between 400 and 3,000 Kb, after the results of pulsed-field gel analysis and from the knowledge of regional mapping of the probes D21S17, D21S55, and ETS2. This region, located on the proximal part of 21q22.3,is postulated to contain genes the overexpression of which plays a major role in the pathogenesis of Down syndrome.

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