Наследственные заболевания и врожденные пороки развития INTERPHASE MOLECULAR CYTOGENETIC DETECTION RATES OF CHRONIC LYMPHOCYTIC LEUKEMIA-SPECIFIC ABERRATIONS ARE HIGHER IN CULTIVATED CELLS THAN IN BLOOD OR BONE MARROW SMEARS Alhourani E., Glaser A., Schlie C., Pohle B., Liehr T. Jena University Hospital, Institute of Human Genetics, Jena, Germany Banding cytogenetics is still the gold standard in many fields of leukemia diagnostics. <...> However, in chronic lymphocytic leukemia (CLL), GTG-banding results are hampered by a low mitotic rate of the corresponding malignant lymphatic cells. <...> Thus, interphase fluorescence in situ hybridization (iFISH) for the detection of specific cytogenetic aberrations is done nowadays as a supplement to or even instead of banding cytogenetics in many diagnostic laboratories. <...> These iFISH studies can be performed on native blood or bone marrow smears or in nuclei after cultivation and stimulation by a suitable mitogen. <...> As there are only few comparative studies with partially conflicting results for the detection rates of aberrations in cultivated and native cells, this question was studied in 38 CLL cases with known aberrations in 11q22.2, 11q22.3, 12, 13q14.3, 14q32.33, 17p13.1, or 18q21.32. <...> The obtained results implicate that iFISH directly applied on smears is in general less efficient fo r the detection of CLL-specific genetic abnormalities than for cultivated cells. <...> This also shows thatapplied cell culture conditions are well suited for malignant CLL cells. <...> Thus, to detect malignant aberrant cells in CLL, cell cultivation and cytogenetic workup should be performed and the obtained material should be subjected to banding cytogenetics and iFISH. <...> INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY IN A MOROCCAN PATIENT WITH DE NOVO INVERTED DUPLICATION 9p24p12 AND DEVELOPMENTAL DELAY: A CASE REPORT Amasdl S.1,2 Sefiani A.1,2 1 , Natiq A.2,3 , Elalaoui S. C.2 , Sbiti A.2 , Liehr T.4 Centre de Gйnomique Humaine, Facultй de Mйdecine et de Pharmacie, Universitй Mohammed V Souissi, Rabat, Morocco; 2 d’Hygiиne, Rabat, Morocco; 3 Rabat, Morocco; 4 Dйpartement de Gйnйtique Mйdicale, Institut <...>