Clinical Case Report

Human Genetics

, Volume 80, Issue 4, pp 401-404

First online:

Interstitial deletion of chromosome 15: two cases

  • L. de F. FormigaAffiliated withService de Génétique, Centre de Transfusion Sanguine
  • , L. PoenaruAffiliated withLaboratoire de Biochimie-Génétique, CHU Cochin
  • , F. CouronneAffiliated withService de Pédiatrie, Clinique Claude Bernard
  • , E. FloriAffiliated withService de Génétique, CHU Haute-Pierre
  • , J. L. EibelAffiliated withService de Génétique, CHU Haute-Pierre
  • , M. M. DeminattiAffiliated withService de Cytogénétique, Hôpital Calmette, CHU
  • , J. B. SavaryAffiliated withService de Cytogénétique, Hôpital Calmette, CHU
  • , J. L. LaiAffiliated withService de Cytogénétique, Hôpital Calmette, CHU
  • , S. GilgenkrantzAffiliated withService de Génétique, Centre de Transfusion Sanguine
    • , M. PiersonAffiliated withService de Pédiatrie I, Hôpital d'enfants, CHU

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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.