A NOVEL GENETIC THROMBOCYTOPENIA (PARIS-TROUSSEAU) ASSOCIATED WITH PLATELET INCLUSIONS, DYSMEGAKARYOPOIESIS AND CHROMOSOME DELETION AT-11Q23

We report a novel case of hereditary thrombocytopenia. A chronic throm bocytopenia was noted in a woman with mild hemorrhagic complications a s well as in her very young son. A platelet fraction contained giant g ranules stained in red on blood smears. The number of bone marrow mega karyocytes was increased with many micromegakaryocytes. Since the plat elet lift span was normal these results indicated an ineffective plate let 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 n ever described cytological entity is a valuable model for exploring th e role of some genes involved in the regulation of thrombopoiesis.