Human Genetics

, Volume 80, Issue 4, pp 401–404

Interstitial deletion of chromosome 15: two cases

  • L. de F. Formiga
  • L. Poenaru
  • F. Couronne
  • E. Flori
  • J. L. Eibel
  • M. M. Deminatti
  • J. B. Savary
  • J. L. Lai
  • S. Gilgenkrantz
  • M. Pierson
Clinical Case Report

Summary

Two cases of interstitial deletion of chromosome 15 with similar clinical features are presented. In one case, assay of hexosaminidase A enabled us to confirm that the structural gene is located between 15q22 and 15q25 and that it is included in the deletion.

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References

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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • L. de F. Formiga
    • 1
  • L. Poenaru
    • 2
  • F. Couronne
    • 3
  • E. Flori
    • 4
  • J. L. Eibel
    • 4
  • M. M. Deminatti
    • 5
  • J. B. Savary
    • 5
  • J. L. Lai
    • 5
  • S. Gilgenkrantz
    • 1
  • M. Pierson
    • 6
  1. 1.Service de GénétiqueCentre de Transfusion SanguineVandoeuvre les Nancy CédexFrance
  2. 2.Laboratoire de Biochimie-GénétiqueCHU CochinParisFrance
  3. 3.Service de PédiatrieClinique Claude BernardMetzFrance
  4. 4.Service de GénétiqueCHU Haute-PierreStrasbourgFrance
  5. 5.Service de CytogénétiqueHôpital Calmette, CHULilleFrance
  6. 6.Service de Pédiatrie IHôpital d'enfants, CHUVandoeuvre les Nancy CédexFrance

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