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Biomedical subjects

F Giraud

Publications and source records attributed to F Giraud.

50 records · Page 3Linked to original sources
PubMed1976

Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects.

Breakpoint distribution was studied from cultured lymphocytes on 7653 metaphases from 524 subjects whose karyotypes were normal. The mean break rate was 5% in both sexes. The frequency increased significantly after 40 years and varied during the year. The location of the breaks was very different from the expected random distribution. The break frequency for each chromosome was different according to the type of break (chromatid, simple chromosomal and chromosomal involving rearrangements). The location of the breaks was also studied according to type of band and with respect to the centromere. A comparison between spontaneous breaks, X-ray induced breaks, breaks in Fanconi's anemia had in congenital rearrangements, show very significant differences.

Adolescent↗
PubMed1975

[Trisomy 4p. Three new observations (author's transl)].

Three new observations of trisomy 4p are reported. Two are due to a maternal translocation t(4;15). The third is due to a "mirror" duplication, it is the first case of trisomy 4p without balanced parental rearrangement. The very characteristic phenotype is compared to that of 13 other patients already reported in the literature.

Abnormalities, Multiple↗
PubMed1975

[Trisomy 8 in mosaicism].

Case report of a 6 year old girl without clear dysmorphism or mental deficiency. Chromosome studies, performed on blood lymphocytes, showed trisomy 8 in 80 % of the cells. This case is discussed with regards to a short literature analysis.

Child↗
PubMed1975

[Epidemiological aspects of trisomy 21].

The authors analyse cytogenetic and epidemiological data of 4760 cases of trisomy 21 found in 22 European Centres of Genetics. This cytogenetic study is dealing with the frequency of regular free trisomies and those in mosaics and of trisomies by translocation. The frequency of the different types of translocation has been established thanks to an identification of the chromosomes through marking techniques. The risks and causes of recurrence are discussed. From the epidemiological aspect, the role of the mother's age was the subject of a special study which confirms the bimodal distribution of the trisomy 21. This distribution is discussed in association with the other epidemiological factors: X-ray, virus, auto-immunity and gynaecological disorders.

Chromosomes, Human, 21-22 and Y↗
PubMed1975

[Chromosome analyses in parents of children with trisomy 21[].

In connection with a comparative study between parents of trisomic 21 children and control parents, the authors discuss the eventual role of the increase of association rates between acrocentric chromosomes on the appearance of non-disjunctions and translocations affecting chromosome 21. The results are analyzed and compared with data found in the literature.

Aneuploidy↗
PubMedDate not supplied

[Upper extremity abnormalities, thrombopenia and thrombopathy. 3 cases].

Three cases of congenital radial aplasia and amegakaryocytic thrombopenia are discussed from clinical, genetic and hematological viewpoints. Electron microscope studies of the megakaryocytes in the first two patients revealed the presence of microcytic, immature and hypogranular cells. Platelet aggregability studies in the first patient demonstrated the presence of pathological intra-platelet nucleotide release as well as membrane abnormalities of the Willebrand factor binding site. The second case presented an isolated deficiency in platelet factor 3.

Abnormalities, Multiple↗