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.
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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.