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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization
American Journal of Medical Genetics, Volume 110, No. 2, Year 2002
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Description
Here we report the association of giant platelets and an increase in platelet volume in a 19-month-old black female with de novo del 11q24-qter. The deletion, which was visible on karyotype, was further confirmed and more precisely localized by fluorescence in situ hybridization studies (FISH) that showed the deletion to lie distal to the MLL gene region (11q23). Clinically, the case presented less severe symptoms than Jacobsen syndrome-the well known partial deletion of the distal end of chromosome 11. Platelet glycoproteins CD 41, CD 42a, C 42b, CD 61, and PAC-1 were also assayed and found to be normally expressed. To our knowledge, giant platelets are described for the first time in the relevant deleted region. © 2002 Wiley-Liss, Inc.
Authors & Co-Authors
Lalèyè, Anatole
Benin, Cotonou
University of Abomey-calavi
Delneste, Daniele
Belgium, Brussels
Hôpital Erasme
Pradier, Olivier
Belgium, Brussels
Hôpital Erasme
Hans, Christine
Belgium, Brussels
Hôpital Erasme
Darboux, Raphael
Benin, Cotonou
University of Abomey-calavi
Ogǔr, Gönül
Belgium, Brussels
Hôpital Erasme
Statistics
Citations: 6
Authors: 6
Affiliations: 2
Identifiers
Doi:
10.1002/ajmg.10418
ISSN:
01487299
Research Areas
Genetics And Genomics
Participants Gender
Female