A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion AT 11q23.
R Favier, L Douay, B Esteva, MF Portnoi… - Comptes Rendus de …, 1993 - europepmc.org
R Favier, L Douay, B Esteva, MF Portnoi, P Gaulard, T Lecompte, C Perot, M Adam…
Comptes Rendus de L'academie des sciences. Serie III, Sciences de la vie, 1993•europepmc.orgWe report a novel case of hereditary thrombocytopenia. A chronic thrombocytopenia was
noted in a woman with mild hemorrhagic complications as well as in her very young son. A
platelet fraction contained giant granules stained in red on blood smears. The number of
bone marrow megakaryocytes was increased with many micromegakaryocytes. Since the
platelet life span was normal, these results indicated an ineffective platelet production. A
constitutional cytogenetic abnormality was detected in the two patients: a deletion of the long …
noted in a woman with mild hemorrhagic complications as well as in her very young son. A
platelet fraction contained giant granules stained in red on blood smears. The number of
bone marrow megakaryocytes was increased with many micromegakaryocytes. Since the
platelet life span was normal, these results indicated an ineffective platelet production. A
constitutional cytogenetic abnormality was detected in the two patients: a deletion of the long …
We report a novel case of hereditary thrombocytopenia. A chronic thrombocytopenia was noted in a woman with mild hemorrhagic complications as well as in her very young son. A platelet fraction contained giant granules stained in red on blood smears. The number of bone marrow megakaryocytes was increased with many micromegakaryocytes. Since the platelet life span was normal, these results indicated an ineffective platelet production. A constitutional cytogenetic abnormality was detected in the two patients: a deletion of the long arm of chromosome 11. The association of these abnormalities constitute a new disorder: this never described cytological entity is a valuable model for exploring the role of some genes involved in the regulation of thrombopoiesis.
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