[Intra-erythrocytic enzyme activity in trisomy 21].
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Biomedical subjects
Publications and source records attributed to F Giraud.
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In situ hybridization (ISH) is a new technique which allows localizing on chromosomes a molecule of DNA homologous to a given sequence of nucleic acids. It permits to improve the chromosomal analysis by marking any sequence of nucleic acids in interphase or metaphase. It opens new prospects for chromosomes mapping, study of evolution, chromosomal diagnosis, the role of oncogenes and chromosomal mechanics.
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Three cases of congenital radial aplasia and amegakaryocytic thrombopenia are discussed from clinical, genetic and hematological viewpoints. Electron microscope studies of the megakaryocytes in the first two patients revealed the presence of microcytic, immature and hypogranular cells. Platelet aggregability studies in the first patient demonstrated the presence of pathological intra-platelet nucleotide release as well as membrane abnormalities of the Willebrand factor binding site. The second case presented an isolated deficiency in platelet factor 3.
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