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Biomedical subjects

B Noel

Publications and source records attributed to B Noel.

At least 55 records · Page 3Linked to original sources
PubMed1976

[A small supernumerary metacentric chromosome: interprétation test (author's transl)].

The report relates to a new case of small supernumerary metacentric chromosome. The phenotypical variability of previously published cases suggests that this chromosomal anomaly may arise from multiple origins. Our study shows the difficulties of a cytogenetic interpretation and the limits of the semeiologic arguments. It is, however, possible to hypothesize an 18 partial trisomy.

Acridines↗
PubMed1975

[Study of human chromosomes using fluorescence technics].

Fluorescent techniques permitted us to draw up a system of banding of human chromosomes, using quinacrine derivatives. This procedure may be used to measure the density of the chromosomes. Recently, other techniques which use various fluorochromes after denaturation, have been developed. The latter, which use acridine orange, give remarkably reliable and reproducible results. These techniques are particularly useful for the analysis of structural changes in the chromosomes. Their use is illustrated by a certain number of observations where they permitted the authors to determine the type of structural change and identify the chromosomes involved. The method of constitution and significance of the fluorescent bands is very controversial. It is not clearly known whether the fluorochromes combine with DNA or with protein bound to the latter. In spite of this uncertainty, the existence of heterogeneity in the structure of the chromatids at the metaphase provides new information for the understanding of chromosome organisation.

Acridines↗
PubMed1975

Partial 4q trisomy. Apropos of 3 cases.

Three observations of partial trisomy 4q are reported: the first due to a familial translocation the second to a de nove translocation, the third to a "mirror" duplication. The very characteristic phenotype is compared to that of 4 other patients already reported in the literature. The most evocatory symptoms include: absent or poorly indicated nose bridge; pursed lips; shortness of the philtrum; and constant existence of a fold on the antitragus continuing the anthelix reachinghe insertion of the pinna.

Abnormalities, Multiple↗