Biomedical subjects
Publications and source records attributed to J L Taillemite.
Cytogenetic studies are reported in a case of juvenile chronic myelocytic leukemia with dysmyelopoiesis and skin involvement. The clonal evolution of a 6q-anomaly is described. Hematological and cytogenetic findings suggest a role of hematopoietic stem cell in this patient for whom the outcome was fatal.
The permanent SLC-11 and -41 intestinal epithelial cells respectively immortalized by the E1A and large T oncogenes and their clonal derivatives showed a cytogenetic heterogeneity characterized by a near diploidy in SLC-11 and -12 cells and a generalized polyploidy in SLC-41 and -44 cells. Persistence of chromosome translocations and trisomy 3 were observed. The expression of the E1A oncogene in immortalized SLC-11 cells is associated with a strong repression of c-fos transcription during the exponential growth, as compared to the resting phase or to control rat fetal intestinal epithelial cells. The transcription of c-myc was also reduced in SLC-11 cells, especially in confluent cells. A complex relationship between the levels and size of the c-fos, c-myc mRNAs and the expression of the E1A oncogene was therefore observed in SLC-11 cells. Immortalized SLC-11 and -41 cells showed a remarkable growth inhibition in response to recombinant rat gamma-IFN. Neoplastic transformation by activated human Ha-ras in SLC-12T and -44 T cells confer resistance to the antigrowth effects of IFN. The combination of culture conditions using defined medium, membrane matrix (laminin, collagen, proteoglycans) and intestinal mesenchyme revealed the persistence of the undifferentiated phenotype of the E1A, large T-immortalized and Ha-ras-transformed SLC cells in vitro or in the nude mice. In association with the intestinal chick endoderm, SLC-11 cells possess some inductive properties on the differentiation of villi projections arising from the chick endoderm in vivo. In contrast, SLC-41 cells were induced to differentiate in enterocyte-like cells by the intestinal chick mesenchyme. The immortalized and Ha-ras-transformed SLC cells therefore constitute new models in the sequential analysis of the molecular and genetic mechanisms involved in the proliferation, differentiation and oncogene-mediated neoplastic transformation in gut. Further attempts in SLC cell differentiation have to be accomplished using chemical inducers for prolonged periods of time, or by transfection of intestinal epithelial cells using temperature- or glucocorticoid-inducible vectors.
A 21-year old male patient with Philadelphia chromosome-positive chronic myeloid leukaemia received an autologous bone marrow transplant in consolidation of the 2nd chronic phase. The bone marrow had been treated with mafosfamide in adequate doses. The post-transplantation course of the disease was marked by an inversion: the duration of the 2nd chronic phase was more than 4 times longer than that of the first one, suggesting some degree of effectiveness of autologous bone marrow transplantation performed in the 2nd chronic phase and/for of the in vitro treatment of the bone marrow with mafosfamide. Cytogenetic monitoring was pursued throughout the course of leukaemia: regression of the Philadelphia chromosome was only partial and transient, and 3 clones appeared, each of them involving chromosome 1, for which mafosfamide was most probably responsible.
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119 patients had sperm counts and caryotyping performed. Seven out of 33 azoospermic patients had a major caryotype abnormality of the gonosomes. Five out of 86 subjects who were not azoospermic had a persistent translocation and other moderate abnormalities in the sperm picture.
Ring Y chromosome 45,X/46,X,r(Y) was identified by fluorescence in a child with ambiguous external genitalia, urogenital sinus, vagina, uterus, and Fallopian tubes. Testicular tissue was noted on gonadal biopsy.
Four cases of balanced translocations with phenotype abnormalities are reported. Three of them are reciprocal translocation, one is a Robertsonnian translocation. The consequences of the phenomene on genetic counselling and prenatal diagnosis are discussed.
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Glutathione reductase (EC 1.6.4.2.) (GSR) activity was measured in the red cells of patients with different rearrangements of chromosome 8. Of three patients with mosaic trisomy 8, two had a high GSR activity. The lack of correlation between GSR levels and the degree of mosaicism in lymphocytes is discussed. In six patients with trisomy 8qter the mean value of GSR activities was normal. In one patient with trisomy pter leads to q22.1 and in two with trisomy p11 leads to p22, a significant increase (+60%) of GSR activity was observed. In two patients with monosomy p22 leads to pter and p21 leads to pter, respectively, the GSR levels were normal. It is concluded that the gene locus of GSR can be assigned to the 8p11 leads to p22 segment. A comparison of these results with one other case from the literature suggests a more precise assignment of the GSR locus to band p21.
Three observations of Wolf's syndrome (monosomy 4p) are reported and compared to the observations reported in the literature.
A pericentric inversion of chromosome 9 has been detected in 10 unrelated families. The break points are identical and the inversions involved the heterochromatic segment. The effects of inversion of chromosome 9 on different aspects of reproductive failure are discussed.
A case of in testitial deletion of the long arm of chromosome 11 associated with mild facial deformity, broad skull and mental retardation is reported.
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A Robertsonian translocation and two reciprocal translocations were found in chromosome analysis of 65 couples attending for fetal wastage. The possible pathological significance of hyperdiploid cells which were observed is discussed.