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Biomedical subjects

A Geneix

Publications and source records attributed to A Geneix.

At least 37 records · Page 2Linked to original sources
PubMed1983

[Trisomy of the short arm of 9 with isochromosome 9p and partial monosomy Yq].

A patient with trisomy 9p in association with monosomy of the heterochromatic distal portion of the Y chromosome is reported. The rearrangement is probably due to malsegregation of a translocation 9p, Y and formation of an iso (9p). The phenotype of the patient is characteristic of trisomy 9p. There is a significant increase of GALT activity.

Abnormalities, Multiple↗
PubMed1980

[Preliminary study of stages of human meiosis in spermatocytes and ovocytes (author's transl)].

Human meiotic chromosomes, from spermatocytes and ovocytes, are described after observations of whole mount preparations under E.M. Small testicular and ovarian fragments are put in distillated water, then macerated; the cell suspension is spread on the surface of sheet copper grids covered with formvar plus collodion films. After dehydratation interesting stages are selected under L.M. before observations under E.M. Zygotene and pachytene are the most common stages. During pachytene the chromomeres are well individualized; the synaptonemal complex may be observed; chromatin fibers connect the chromosomes to nuclear pores, interchromosomal fibers joint the bivalents. Zygotene and pachytene bivalents are very similar in the male and the feminine germ cells.

Chromatin↗
PubMed1980

[Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)].

Ultrastructural studies of cultured skin fibroblasts derived from an individual affected with Tay-Sachs disease (GM2 gangliosidosis variant B) diagnosed by clinical observation and hexosaminidase A deficiency, revealed several lamellar lysosomal inclusions. These inclusions are not seen in cultured fibroblasts and cultured amniotic fluid cells derived from individuals heterozygotic for Tay-Sachs disease. Normal cells were cultured and observed for comparison.

Cells, Cultured↗
PubMed1979

A new case of partial trisomy 15q-.

Partial trisomy 15 was observed in a newborn with malformations of the head and extremities. A t(5;15) translocation was found in the mother and maternal grandfather.

Abnormalities, Multiple↗
PubMed1977

[Immunocytochemical labeling of human chromosomes by antibodies from human autoimmune serum].

Mitotic human chromosomes are successively irradiated by ultraviolet, incubated with serum from a patient showing systemic lupus erythematosus (S.L.E.), and antihuman Sheep serum conjugated with peroxidase. After revelation by diaminobenzidine (DAB) banding patterns are pointed out. The chromosome labelling is discussed in comparison with results obtained in other immunocytochemical experiments.

Antibodies↗