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Biomedical subjects

P Jalbert

Publications and source records attributed to P Jalbert.

At least 55 records · Page 3Linked to original sources
PubMed1982

[Cytogenetic aspects of diffuse scleroderma : structural anomalies and sister chromatid exchanges (author's transl)].

Structural chromosome anomalies (1 477 cells examined) and sister chromatid exchanges after two replication cycles with BrdU (771 cells studied) were evaluated in 12 patients with diffuse scleroderma and having received no recent or important irradiation. The increase of structural anomalies, chromatidic as well as chromosomal, is always low, inconstant and cannot be considered as having a diagnostic value. Increase of sister chromatid exchanges could be a more sensitive method of investigation. In particular, it is not influenced by low doses of diagnostic X-rays.

Adult↗
PubMed1982

[Mechanism of duplication formation relating to a case of 10q22 to q25 duplication].

A duplication 10q22q25 was studied in the fetus of a mother carrier of a t(14q21q). On this occasion, duplications reported in the literature are reviewed. Chromosomal rearrangements involving two breaks always result in tandem duplications, while three break- rearrangements result in tandem or mirror adjacent duplications, or in non adjacent direct or inverted duplications, or in direct or inverted autointerstitial duplications.

Adult↗
PubMed1981

[Induction of sister chromatide exchange by trichloroethylene and its metabolites (author's transl)].

The mutagenecity of trichloroethylene and its metabolites (trichloroethanol and chloral hydrate) have been tested by using the method of sister chromatide exchanges (SCE). We have found the increasing SCE in workers chronically exposed to trichloroethylene. The increasing of SCE was also observed when the human lymphocytes were exposed to trichloroethanol and chloral hydrate in vitro in certain concentrations. The all results of tests groups are compared with those of the control groups and the difference is statistically significant.

Chloral Hydrate↗
PubMed1980

Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

The study of 151 reciprocal translocations associated with abnormal probands shows that the mode of imbalance at birth is determined by the nature of the involved chromosomes and by the position of the breakpoints. For each of the three modes (adjacent-1, adjacent-2, and 3:1) there is a corresponding pachytene diagram, so that for each translocation variety it is possible to predict the most probable mode of imbalance. The determining factor is the relative length of the different branches of the cross formed by the tetravalent. However, some heterochromatic regions (9qh, short arms of acrocentric chromosomes) and possibly R-negative regions have a minor role. The factors involved in these mechanisms seem to be the selection and the chiasma position; their respective roles are discussed.

Amniocentesis↗
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↗
PubMed1979

Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Reciprocal translocations produce imbalances by three types of disjunction which are, in decreasing frequency, adjacent 1, 3:1, and adjacent 2. Adjacent 1 disjunction produces duplication deficiencies of inverse topography to those of adjacent 2. The imbalanced chromosome segments in one of these types are balanced in the other. The disjunction 3:1 produces pure trisomies and monosomies. The following situations predispose to adjacent 2 disjunction: translocations between the long arms of two acrocentric chromosomes or between one of these and that of a No 9 chromosome; centric segments, either short or carrying a heterochromatic zone (9qh); a balanced translocation in the mother. The factors predisposing to the disjunction adjacent 2 operate by selection, or directly on the meiotic configuration. Some of them (shortness of the interstitial segment, shortness of the short arms of translocation chromosomes) act in both these ways. Their influence is probably responsible for the repetitive and exclusive character of this disjunction. The conditions for the occurrence of the 3:1 disjunctions seem less strict than those for adjacent 2, although they should be of the same nature (involvement of acrocentrics or a chromosome 9 in the translocation, maternal origin).

Chromosome Banding↗
PubMed1977

Distribution of human chromosomes on the metaphase plate using banding techniques.

This study deals with the problem of distribution of the 46 centromeres on the human metaphase plate after treatment with colchicine and hypotonic shock. The location of the centromeres was recorded for 400 metaphases in which the chromosomes were identified by bands. A quantitative analysis of chromosome distribution ascertains the absence of proximities between homologous chromosomes. The already known ones between acrocentric chromosomes are found at a very high level. The nature and intensity of these proximities vary from one sample to another as is the case between heterologues. A three-dimensional graphic technique is proposed to summarize all of the interchromosome proximities.

Cell Cycle↗
PubMed1977

[Ring 6-chromosome: a nonspecific clinical picture].

A new example of ring-6 chromosome is reported in a 5-year-old girl with psychomotor and growth retardation, microcephally, and microphtalmia. The breakpoints are considered to be distal on both arms of chromosome 6, in view of apparently normal transmission of HLA phenotypes.

Child↗
PubMed1977

[Ring-20 chromosome: a new syndrome].

A comparative study of five observations of a r (20) syndrome characterized by facial dysmorphism, the absence of severe malformations, and rather late onset of encephalopathy and seizures.

Brain Diseases↗
PubMed1975

Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'.

Five members of a family with a balanced insertion (1;5)(q32;q11q22) are presented. The daughter of one of them shows multiple malformations and a partial trisomy for the long arms of chromosome No. 5 (5q11 to 5q22 segment) resulting from a 'aneusomie de recombinaison' in her mother. The propositus' karyotype is 46,XX,rec(1;5)ins (1;5)(q32;q11q22). This case is the first reported example of an insertion between two chromosomes followed by 'aneusomie de recombinaison'. It also is the first reported case of trisomy invovling the long arms of chromosome No. 5.

Aneuploidy↗
PubMed1974

[Bloom's syndrome].

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Abnormalities, Multiple↗