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Biomedical subjects

C Susanne

Publications and source records attributed to C Susanne.

At least 55 records · Page 3Linked to original sources

Increase in the amount of fetal lymphocytes in maternal blood during pregnancy.

The presence of male fetal lymphocytes in the maternal blood of 18 pregnant women (15 primigravidae and three who had had previous pregnancies) was analysed by counting quinacrine positive Y bodies in interphases of Y chromosomes in metaphases. Counts were also performed on a control population of ten young women who had never been pregnant and on another control population of seven men to test the efficiency of the staining technique used. After completion of the calculations, comparison of the results with the sex of the newborn babies showed a correct sex prediction of 83% by interphase scoring and of 89% by metaphase scoring. The lymphocyte transfer from fetus to mother has already started by the tenth week of pregnancy, and the percentage of fetal cell present in the bloodstream of a pregnant woman increases with the duration of the pregnancy.

Cells, Cultured↗

Chromosome distribution studies after inorganic lead exposure.

We studied the chromosome distribution in persons professionally exposed to inorganic lead. The degree of lead exposure was evaluated by biochemical measurements and cytogenetic analysis. The chromosome distribution was analyzed from trypsin banded karyotypes; in particular we studied centromere distances (delta2) and centromere-metaphase-center distances (d2) which were obtained by computer-aided mathematical transformation of the individual metaphase coordinates. Higher concentrations of blood lead and urine delta-ALA and a statistically significant increase in aneuploidy, hypoploidy, and type-B chromosome aberrations revealed appreciable exposure although none of the subjects showed signs of excessive lead absorption. However study of the chromosome distribution showed no major differences with that of the controls indicating that lead acts preferentially (directly or indirectly) on the chromosomes rather than on the spindle apparatus. A dissociation of the acrocentric chromosomes was observed in the lead group when compared with the controls. This is thought to reflect a secondary action of lead on the nucleolar organiser regions.

Adult↗

Cytogenetic investigation on leukocytes of workers exposed to metallic mercury.

A cytogenetic analysis was performed in 28 mercury-exposed subjects as well as eight control subjects from the same chloralkali plant and in 12 healthy controls from the "general population." No chromosomal effects could be demonstrated in the mercury-exposed population in comparison with both control groups. Also no effect of smoking was observed. From the study it seems obvious that mercury, although it is capable of producing chromosomal damage even at low exposure levels, will not be harmful in this respect when adequate protection measures are taken.

Adult↗

Chromosome distribution studies in phenyl mercury acetate exposed subjects and in age-related controls.

Peripheral blood lymphocytes of phenyl mercury acetate exposed persons and a control population of the same age were cultured for 48 h. In both populations 100 metaphases were trypsin-banded and caryotyped. The relative position of the metaphase chromosomes was studied by means of centromere--centromere distances (delta2) and centromere--metaphase centre distances (d2) obtained by computer-aided mathematical transformation of the individual metaphase coordinates. By comparing both investigated cell populations we mainly observed that the chromosome combinations which statistically differ in mercury-exposed workers from the controls show an increase of centromere-centromere distances after mercury exposure. From the data we may suggest that phenyl mercury acetate influences at first the position of particular chromosomes; especially D-group chromosomes which are involved in nucleolus organisation. This may be due to a greater density of SH-wearing molecules in that region or to a possible inhibition of specific enzymes regulating the nucleolar activity. The exposure level is however too low to allow definite conclusions in this respect.

Adult↗

Multivariate analysis of head measurements in Punjabi families.

Four head measurements (head length, head breadth, frontal breadth and head height) have been compared in relatives of different degrees from samples of 200 Punjabi and 125 Belgian families. A method of generalized distances is used which allows examination of the proportions of the head as a whole. The values of the generalized distances between concordant and discordant twins are compared with those between brothers, sisters, siblings, parents-and-children, and parents. The results strongly support the influence of genetic factors, but also demonstrate environmental influence.

Adolescent↗

Non-random association of trypsin-banded human acrocentric chromosomes.

This paper deals with a computer-aided study of the associations between acrocentric chromosomes as well as between those other chromosomes which in our investigations were revealed to be significantly closer to each other than random. The chromosome pairs were identified by a trypsin-banding technique. The method used has been elaborated previously with the specific aim of determining associations in a manner that avoids all subjective criteria. The tendency for association between homologous chromosomes is in decreasing order: 21 and 13 greater than 1 greater than 14, 18 and 19 greater than 17. Among the nonhomologous acrocentric chromosomes the significant tendencies for associations are between D-D: 13-14 greater than 13-15 greater than 14-15; between D-G: 13-21 greater than 14-21 greater than 13-22 greater than 15-22. The implication of the different tendencies to associate are dicussed in terms of aetiology of numerical and structural chromosome abnormalities.

Adult↗

Maturational delay and temporal growth retardation in asthmatic boys.

Growth in height, bone age, and sexual maturation have been studied in asthmatic boys 2 to 20 yr of age. The mean pattern of growth in height has been analyzed mixed-longitudinally in 531 patients (1,754 measures) and seemed to be determined by a delay in physiologic maturation. The asthmatic boys' growth in height showed no retardation during infancy, a small but consistent retardation during childhood, a more pronounced delay at adolescence, and a catch-up growth toward adulthood. The mean adolescent growth spurt is delayed by about 1.3 yr. Bone age has been analyzed mixed-longitudinally in a subsample of 370 patients (660 observations) and showed a slight retardation at all ages between 6 and 13 yr. Development of pubic hair of 91 subjects analyzed cross-sectionally was definitely retarded when compared to adequate reference data. Evidence was given that factors secondary to the asthmatic syndrome are involved in the retardation of growth and development.

Adolescent↗

Stability of centromere-center distances in normal human metaphases.

Centromere-center distances were analyzed in 50 normal female and 100 normal male metaphases. Compared with the random distribution of all chromosomes, chromosome pair 6 had a significantly different distribution in both female and male metaphases. Moreover, a significant peripheral location of chromosome pairs 4 and 5 and a significant central location of chromosome pairs 13, 15, 21, and 22 were found in male metaphases. But no specific peripheral location could be assigned to the X or Y chromosomes. No inter- nor intraindividual differences or sex-dependent variation in centromere-center distances were observed. Variance analyses demonstrated consistent centromere-center distances in normal human metaphases obtained from individuals of the same age. The constancy of these chromosome distributions may correlate with chromosome duplication pattern, chromosome length, and chromosome structure.

Adult↗

Relative position of trypsin banded homologous chromosomes in human (female) metaphase figures.

"Generalized distances" between centromeres were statistically analyzed (chi2 test) on 50 normal female trypsin-banded metaphase figures. This study revealed that the homologous chromosomes of the pairs 13, 17, 14, and 21 lie closer together than would be expected by a reference distribution, and this in a statistically significant way. The same relative position was demonstrated for the chromosome groups 13-14, 13-21, 14-21, 15-22, and 14-22. Evidences were collected that also showed that homologous chromosomes of the pairs 1, 19, and 20 and the chromosome groups 15-21, 13-15, and 18-20 tend to lie closer together. Giving a functional interpretation to the phenomenon of non-random distribution of chromosomes in metaphase figures, it may be suggested that the chromosomes 13, 14, and 21 are involved in the organization of the human nucleolar organizers, more frequently than the other D- and G-group chromosomes.

Cell Nucleus↗

Genetic and environmental influences on morphological characteristics.

Study has been made of 37 anthropometric measurements in a socially selected sample of 125 Belgian families, comprising parents and adult children. The parent-child and mid-parent-child correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to another, being greatest in the longitudinal body measurements, least in the circumferences involving soft tissues and in measures of the nose and mouth. Further analysis of the intrafamilial correlation, and variance analysis by the method of Fisher and Gray (1937), shows that neither dominant nor X-linked loci exert any appreciable effects.

Adolescent↗