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Biomedical subjects

M Prieur

Publications and source records attributed to M Prieur.

At least 91 records · Page 5Linked to original sources
PubMed1985

[Reciprocal syndromes caused by deficiency duplication resulting from maternal t(10;18)(p12;q22) translocation].

The detection of a familial translocation, t(10;18)(p12;q22), has made possible the observation in type and countertype of two related persons with opposite chromosomal imbalance: trisomy 18q22----18qter with monosomy 10p12----10pter in one of the two and monosomy 18q22----10pter in the other. In each case the abnormalities attributable to monosomy overrule those attributable to monosomy overrule those attributable to the associated trisomy.

Adolescent↗
PubMed1985

[Exact localization of several fragile sites remains uncertain. The example of fra(10) sensitive to folate].

The localization of the folate-sensitive fragile site first proposed to be at 10q24.2 was further assigned to 10q23. The study of one case using several banding techniques, and of 12 other unpublished cases studied with R-banding confirm the original localization, at the junction between 10q24.1 and 10q24.2. Because many reports propose that fragile sites induce further anomalies, we suggest that a re-study of the exact location of these sites with accurate methods is in order if misinterpretations are to be avoided.

Chromosome Banding↗
PubMed1982

The cell cycle of lymphocytes in Fanconi anemia.

BrdU-incorporation techniques were used to study the cell cycle in 18 cases of Fanconi's anemia (FA). By comparison with controls, a significant slowing of the cell cycle of lymphocytes in vitro was observed in all FA patients, and possibly in FA heterozygotes, although to a lesser degree. It is probable that the demonstration of the slowing is dependent on the culture conditions. No slowing was observed in other patients affected by at least one of the symptoms of FA. The slow cell cycle of FA cells is mostly due to a very long G2-phase. A relationship between slow cell cycle and chromatid anomalies exists, the slower cells being significantly more frequently carriers of radial figures than the faster cells, in the same patient.

Anemia, Aplastic↗
PubMed1982

[Non random position of metaphasic chromosomes. IV. Study of translocations t(7;14)(p14;q12) and t(7;14)(q35;q12)].

A study is reported on the distances between rearranged chromosomes and between their normal homologues in the case of t(7;14)(p14;q12) and of t(7;14)(q35;q12), in lymphocytes from patients with ataxia-telangiectasia (AT) and in non-affected persons. The study shows that rearranged chromosomes, in t(7;14)(p14;q12) are closer together, in non-AT persons, than their normal homologues. This is interpreted as the result of recent, repeated, and poorly transmitted mutations, in non-AT persons. On the contrary, this translocation, probably not eliminated in AT patients, becomes the most frequent.

Ataxia Telangiectasia↗
PubMed1981

[Fragile site Xq27 and metabolism of monocarbons. Significant decrease of the frequency of chromosomal gaps by treatment in vitro and in vivo].

A decrease of frequency of a gap at the extremity of the long arm of the X chromosome (fragile site Xq27) is obtained by adjonction of monocarbons precursors to lymphocytes cultures. The efficacity of the treatments is precised by the analysis of 44 629 mitoses. For the first time, in one patient, parenteral administration of 5-formyl-tetrahydrofolate lead to a clinical improvement with concomitant disappearance of the gap.

5-Hydroxytryptophan↗
PubMed1981

Non random position of metaphasic chromosomes: a study of radiation induced and constitutional chromosome rearrangements.

The rearranged chromosomes derived from reciprocal translocations or dicentric-acentric formations, observed 48 h after their induction by irradiation at Go phase, have a clear tendency to be closer together than their normal homologues. This tendency disappears in longer cultures, and does not exist when many different constitutional reciprocal translocations are considered together. It indicates that the chromosomes having exchanged segments remain adjacent at the following metaphase, and thus, that metaphase plates reflect, at least partially the interphase arrangement of chromosomes.

Cells, Cultured↗
PubMed1981

Tentative estimate of the risk of chromosomal disease due to radiation-induced translocations in man.

An attempt to estimate one of the parameters establishing the risk of occurrence of abnormal live-born progeny by malsegregation of radiation-induced translocation is reported. A sample of 247 2-break translocations induced by gamma-rays in human lymphocytes was studied in relation to the minimal possible imbalance they could induce in gametogenesis. These imbalances were compared with chromosomal trisomies and monosomies known to be compatible with life after birth in man. It is concluded that at least 106 out of 247 translocations should not give viable products in cases of malsegregation. A second comparison, with translocations ascertained in human subjects for various reasons, led to the conclusion that about 2/5 of the radiation-induced translocations might involve a risk of partial trisomies or monosomies. Cell survival and frequency of meiotic malsegregations are other parameters needed to make a correct estimate. A short discussion shows the difficulty of such estimates from inter-specific comparisons.

Cells, Cultured↗