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Biomedical subjects

J L Taillemite

Publications and source records attributed to J L Taillemite.

At least 37 records · Page 2Linked to original sources
PubMed1986

Meiotic behaviour of familial pericentric inversions of chromosomes 1 and 9.

Pachytene analysis was carried out in two infertile brothers, one heterozygous for two pericentric inversions of chromosomes 1 and 9, the second heterozygous for the pericentric inversion of chromosome 1. The synaptic behaviour of the bivalent 1 inversion was the most informative. Analysis of the chromomere pattern combined with centromeric heterochromatin staining and synaptonemal complexes visualization allowed precise description of synaptic initiation and extension leading to the homosynapsed loop. Heterosynapsis following alignment of the inverted segments was demonstrated. Non-homologous synapsed bivalents had the morphological aspects of straight bivalents with two distant blocks of centromeric heterochromatin. The possible sterilizing effect caused by the autosomal inversion is discussed.

Adult↗
PubMed1985

[Fetal karyotyping of fetal blood obtained from the umbilical vein using ultrasound].

The fetal karyotype was established during the second or third trimester of 18 at risk pregnancies after fetal blood sampling by direct puncture of the umbilical vein guided by real time ultrasound. Two karyotypes were abnormal. This rapid technique for karyotyping allows the obstetrician to decide early how the pregnancy should be conducted.

Chromosome Aberrations↗
PubMed1983

Paternal age and Down's syndrome diagnosed prenatally: no association in French data.

An investigation of a paternal age effect independent of maternal age was undertaken for 118 trisomy 21 cases diagnosed prenatally in 6656 amniocenteses. The mean of the difference delta in paternal age of Down's syndrome cases compared to those with normal genotypes after controlling for maternal age was +0.46 with a 95 per cent confidence interval of -0.84 to +1.76. This revealed no evidence for a paternal age effect. Multiple applications of the Mantel-Haenszel test revealed no statistically significant evidence for a paternal age effect independent of maternal age. These results are in agreement with those of Hook and Cross (1982b) but not with claims of Stene et al. (1981), of a strong paternal age effect detected in studies on prenatal diagnosis. The hypothesis suggested by Hook and Cross (1982a) that there is a rather weak paternal age effect independent of maternal age in most if not all populations cannot be excluded. If temporal or geographic factors account for the differences in studies on paternal age effect, extrapolation to other time periods or populations cannot be done.

Adolescent↗
PubMed1982

[Ring chromosome 10: 46,XX,r(10)(p15q26)].

A teenage girl with growth and mental retardation, urinary tract and eye abnormalities was found to have an r(10)(p15q26) in blood cells. Quantitative evaluation of seven red cell enzymes including three (HK1, TGOS, PGAMA) known to be on chromosome 10, gave normal values.

Abnormalities, Multiple↗
PubMed1981

[Antenatal diagnosis. 601 chromosome examinations (author's transl)].

601 antenatal chromosome tests were carried out by culturing amniotic liquor. The fetal caryotype was abnormal in 18 cases (3.1 per cent). Most of the examinations were carried out because of advanced maternal age and they gave rise to the diagnosis of 15 abnormalities (3.3 per cent). It should be possible to carry out this kind of screening of patients over the age of 38.

Adult↗
PubMed1980

Semen analysis in subfertile balanced-translocation carriers.

The spermograms of 19 subfertile translocation carriers were analyzed. Most of these men had moderate oligo-/astheno-/teratospermia. The results were widely spread, and some reached normal values, suggesting that autosomal rearrangement of the karyotype does not lead to severe oligospermia or azoospermia as do sex chromosome aberrations. No statistically significant differences in sperm count, motility, or morphology were found when semen analysis results of subfertile balanced-translocation carriers were compared with those of subfertile men with normal karyotypes. Since semen analysis alone is insufficient to allow prediction of an autosomal rearrangement of the karyotype, chromosome analysis should become a part of the routine investigation of subfertile men. The association between translocation heterozygosity and reduced fertility in men cannot be easily explained. The possible reasons underlying impaired spermatogenesis in some translocation carriers are discussed in relation to meiotic findings in animals.

Adult↗
PubMed1978

A case of ring Y chromosome.

Ring Y chromosome 45,X/46,X,r(Y) was identified by fluorescence in a child with ambiguous external genitalia, urogenital sinus, vagina, uterus, and Fallopian tubes. Testicular tissue was noted on gonadal biopsy.

Disorders of Sex Development↗
PubMed1978

[Balanced translocations with abnormal phenotype (author's transl)].

Four cases of balanced translocations with phenotype abnormalities are reported. Three of them are reciprocal translocation, one is a Robertsonnian translocation. The consequences of the phenomene on genetic counselling and prenatal diagnosis are discussed.

Abnormalities, Multiple↗
PubMed1977

[Possible localization of the glutathione reductase (EC 1.6.4.2) on the 8p21 band].

Glutathione reductase (EC 1.6.4.2.) (GSR) activity was measured in the red cells of patients with different rearrangements of chromosome 8. Of three patients with mosaic trisomy 8, two had a high GSR activity. The lack of correlation between GSR levels and the degree of mosaicism in lymphocytes is discussed. In six patients with trisomy 8qter the mean value of GSR activities was normal. In one patient with trisomy pter leads to q22.1 and in two with trisomy p11 leads to p22, a significant increase (+60%) of GSR activity was observed. In two patients with monosomy p22 leads to pter and p21 leads to pter, respectively, the GSR levels were normal. It is concluded that the gene locus of GSR can be assigned to the 8p11 leads to p22 segment. A comparison of these results with one other case from the literature suggests a more precise assignment of the GSR locus to band p21.

Chromosome Mapping↗