A New Congenital Dysmegakaryopoietic Thrombocytopenia ( Paris-Trousseau ) Associated With Giant Platelet &-Granules and Chromosome 11 Deletion at l lq 23

This study characterizes a new congenital thrombocytopenia with mild hemorrhagic tendency occurring in a woman and her child with the following features. We found a deletion of the distal part of one chromosome 11 [del(ll)q23.3 -+ qter] that was detected by cytogenetic analysis and confirmed by chromosome painting in the two patients and also an increased number of bone marrow megakaryocytes (MKS), including numerous micromegakaryocytes (mMKs) associated with a normal platelet life span. A normal number of MK colonies in culture was observed with one third of them containing a few large MKS; however, these were always associated with mMKs identified by immunologic staining. A massive cell lysis was observed at the end of the maturation. Fifteen percent of the platelets in the peripheral blood showed giant a-granules resulting from the fusion of a-granules. These giant granules, which appeared in red on giemsa stain, had a mean diameter of 1.5 pm and showed all markers (detected at electron microscopy by immunogold method) of matrix and a-granule membrane,ie, von Wille-

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