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Biomedical subjects

F Giraud

Publications and source records attributed to F Giraud.

At least 163 records · Page 9Linked to original sources
PubMed1979

[Structural abnormalities of the Y chromosome. Observations in ten cases].

The authors report ten cases of structural anomalies involving the Y chromosome: five cases of a dicentric Y chromosome, one ring Y chromosome, one case of a Y isochromosome containing the long arms, one deletion of the long arms (Yq-), one case of an abnormally long Y chromosome (Yq+) and one Y-autosome translocation. Analysis of clinical and chromosomal correlations, especially with respect to sexual differentiation, led to discussing the role of the Y chromosome.

Adolescent↗
PubMed1978

A dynamic study in two new cases of X chromosome translocations.

The authors discuss the clinical and cytogenetic problems raised in two new cases of X-chromosome translocations. The first case involves a child who presented marked malformations at age 3 months. Chromosome analysis revealed the presence of a translocation between a 22 and X chromosome resulting in partial X monosomy and partial trisomy 22: 46,X,der(X),t(X:22)(q112;q13)mat. The balanced translocation form was detected in the mother. Dynamic study after 5-Brdu treatment revealed inactivation of the translocated X chromosome in the proband, while in the mother the normal X chromosome was inactivated. In addition to magnesium dependent hypocalcemia resulting from a specific absorption anomaly, Case 2 presented discrete malformations and psychomotor retardation. Chromosome analysis revealed an apparently balanced translocation between a 9 and X chromosome: 46,X,t(9;X)(q12;p22). Treatment with 5-Brdu demonstrated that the translocated X chromosome was inactivated but that inactivation did not extend to the translocated part of chromosome 9. Finally, a pericentric inversion of a 9 chromosome was detected in the father, grandfather, and brother of the proband.

Bromodeoxyuridine↗
PubMed1978

The effect of membrane cholesterol on the sodium pump in red blood cells.

1. Human red blood cells (R.B.C.) were incubated with phosphatidylcholine vesicles to obtain partial depletion of their membrane cholesterol. The kinetic parameters of the Na pump (affinities and maximal fluxes) were determined in these cells and compared with controls. 2. In the presence of internal K, progressive cholesterol depletion induces gradually (i) an increase of the maximal flux (ii) a reduction of the apparent affinity for internal Na. 3. In the absence of internal K, cholesterol depletion has no apparent effect, indicating that the observed changes were mediated by the internal K. Cholesterol depletion acts by increasing these two K effects: (i) activation of the maximal fluxes, and (ii) reduction of the internal Na affinity. 4. The cholesterol effect (on the K-pump interaction) is specific; it occurs without any change (i) in the affinities for internal Na and inorganic phosphate and for external Na and K, and (ii) in the number of pumping sites. 5. Under physiological conditions, cholesterol reduces the cation translocation rate and increases the selectivity of the pump for internal Na.

Binding Sites↗
PubMed1978

Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome.

An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.

Abnormalities, Multiple↗
PubMed1978

[Craniostenoses].

Explore the source record for details and available documents.

Age Factors↗
PubMed1977

A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).

A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes, with 5% presenting a 46,X,dic(X) formula. Cytogenetic and clinical problems raised by this observation are discussed in relation to data from the literature.

Child↗
PubMed1977

Four new cases of Dicentric Y chromosomes.

Dicentric Y chromosomes are rare in man. Four new cases of dicentric Y chromosomes are described. The cases of the literature so far reported are reviewed. Among the cases, a wide range of variation in phenotype, external genitalia, histology, and chromosomal findings was observed. The relationship of the clinical picture and structural abnormalities of the Y chromosomes is discussed.

Adolescent↗
PubMed1977

Subacute myelocytic leukemia associated with the philadelphia chromosome and supplementary translocation : 9-12.

The authors report a case of subacute myelocytic leukemia presenting some severe aspects. The cytogenetic findings show the Philadelphia chromosome ; t (9-22) and a second translocation between the chromosome 12, and the other chromosome 9 : t (9-12). They think that this second translocation represents a supplementary cytogenetic argument for the isolation of "Subacute myeloid Leukemia with Philadelphia chromosome" within chronic myeloid Leukemia.

Chromosome Aberrations↗
PubMed1977

[Partial trisomy 13 due to maternal translocation t(2;13)].

The authors report an observation of partial trisomy 13p13 leads to qter and suggest a clinical map of chromosome 13. Increase of fetal hemoglobin seems to be controlled by region 1 of 13q. Bands q13 q14 and q21 seem to be responsible for inner organ malformations. Lastly, the distal segment q22 leads to qter is responsible for trigonocephaly and limb abnormalities.

Chromosome Mapping↗
PubMed1977

[Refractory sideroblastic anemia, three cases with the same extra marker chromosome (47, Mar +) (author's transl)].

Three very similar cases of sideroblastic idiopathic anemia were respectively observed for 105, 57 and 69 months. The cytogenetic blood study was normal. But the medullary genetic findings showed marker extra-chromosome, having the same aspect in each metaphase = 47 Mar +. It was respectively found in 13 mitoses/32, 2/45 and 1/30. The study of chromosome showed that it was not a normal cytogenetic C-chromosome at all, even it seemed to be a C - X type chromosome at first. The long arms had about the same size as the one of the C- type. But the short arms were really shorter. The study on R- bands showed a chromosomic marking unkown so far. The cytogenetic abnormalities described during the sideroblastic idiopathic anemias, the rare sideroblastic idiopathic anemias where were found a C- type chromosome really identified, then the well-defined myeloproliferative disorders having an extra- C chromosome, have been looked over again through the litterature. In each of our three studies we can think that these myelodysplasia are real mysloproliferative disorders because of the same marker extra-chromosome, but even after nine months we did'nt observe any chromosomal sign of blastic transformation.

Aged↗
PubMed1977

[Clouston's ectodermal dysplasia. A case report with biochemical study of keratin].

One familial case of ectodermal dysplasia of the Clouston's type is reported. The clinical picture consisted of hypotrichosis and dysonychia with normal sweating. The disease follows dominant autosomal transmission. Histologically, keratin was slightly abnormal. The biochemical study of keratin of hair and nails showed diminished cysteine.

Child↗