Acta geneticae medicae et gemellologiae

Journal Information
ISSN / EISSN : 1120-9623 / 2059-6316
Published by: Cambridge University Press (CUP) (10.1017)
Total articles ≅ 1,858
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Latest articles in this journal

Manju Ajmani, Archana Sharma, Geeta Talukder
Acta geneticae medicae et gemellologiae, Volume 27, pp 11-29; https://doi.org/10.1017/s0001566000009466

Abstract:
The occurrence of different types of hemoglobin variants in India has been well-documented in urban populations and in certain tribal areas. Beta-thalassaemia and hemoglobins D, E, H, S, and rare variants like Hb Lepore, have been found in varying percentages. There is a higher incidence of Hb E in the Eastern region and of Hb D in certain Northern populations. The association of Hb E with beta thalassaemia G6PD deficiency has been established. The relationship with other environmental factors, like malaria, is not yet clear.
, V. Brinchi, P. Curatolo
Acta geneticae medicae et gemellologiae, Volume 26, pp 287-290; https://doi.org/10.1017/s0001566000009788

Abstract:
Two unrelated patients with multiple congenital malformations and severe mental retardation were found to be carrier of a non-mosaic ring 22 chromosome abnormality. These observations further confirm the phenotypical variability of r(22) expression, which makes unreliable the attempts to delineate a clinical profile of the syndrome
A. Preto, E. Lenzini, P. Drigo, G. Fasoli, A. De Pascale
Acta geneticae medicae et gemellologiae, Volume 26, pp 283-286; https://doi.org/10.1017/s0001566000009776

Abstract:
A case of a patient carrying a 9p trisomy due to a maternal t(9;18) (p 13;p11) translocation is reported. In addition to the principal findings which characterize the 9p trisomy syndrome, this case presents some dysmorphic features due to the partial deletion of chromosome 18.
Ramesh Chaube
Acta geneticae medicae et gemellologiae, Volume 26, pp 293-295; https://doi.org/10.1017/s0001566000009806

Abstract:
The palmar flexion creases of fully diagnosed patients of throat cancer (n = 120) and tuberculosis (n = 80) have been compared with a control group (n = 150) of the same stock. The palmar flexion creases of cancer and tuberculosis patients ate significantly different from those of the control population.
María De Nazaré Trindade Marques, Jorge Marques
Acta geneticae medicae et gemellologiae, Volume 26, pp 291-292; https://doi.org/10.1017/s000156600000979x

Abstract:
In four families of color blind subjects, a dermatoglyphic analysis was made and the results compared with data from normal subjects. The Student's t test, howeverf failed to show any significant differences in the means of the two groups.
Luigi Gedda
Acta geneticae medicae et gemellologiae, Volume 26, pp 193-196; https://doi.org/10.1017/s0001566000009673

Abstract:
Allow me to start by observing that, in the word “reproduction”, the initial syllable, Re, has a remarkable importance, at least to the geneticist. In fact, when we say “reproduction”, we do not merely mean that a living being is produced, but we also mean that the production of such a living being implies the repetition of a model that is present in the species, in the population, in the family. Moreover, the model that is reproduced is not only that of an embryo, of a fetus, of a neonate, but is also that of a child, of an adolescent, of an adult, of an old man. Reproduction is therefore the repetition of a model that is not limited to the amphimixis, to gestation or birth, but that dominates throughout the entire cycle of life with a continuous variability, that is, through a dynamic and individualized phenogenesis. Such an extension of the concept of reproduction from the stage of conception to the standards of the successive ages, requires that a view based on immediate times be substituted with a view based on long times. This means, in other words, that a new parameter should be explicitly considered as part of the zygote's blueprint: the chronologic parameter.
M. Milani-Comparetti, D.P. Pace, G. Brenci, S. Damiani, L. Gedda
Acta geneticae medicae et gemellologiae, Volume 26, pp 299-303; https://doi.org/10.1017/s000156600000982x

Abstract:
The distribution of ABO, MN and Rh-Hr phenotypes has been examined in a sample of 688 twin pairs, with particular emphasis on the ABO distribution. It appears that MZ and DZ pairs exhibit opposing deviations from the expected distribution; such deviations tend to cancel out each other in the total sample, thus masking the phenomenon. The results are briefly discussed, calling for an extension of the study to the twins' families, while forthcoming papers will present further analyses.
M. R. Chakravartti, Rama Chakravartti
Acta geneticae medicae et gemellologiae, Volume 26, pp 297-298; https://doi.org/10.1017/s0001566000009818

Abstract:
ABO blood groups have been examined in a sample of 400 chicken-pox patients and their 383 unaffected siblings from Hyderabad Andhra Pradesh, India. Subjects of blood group A (and possibly AB) would appear to have a somewhat higher risk than persons with group B and O to develop chicken pox.
G. Schwanitz, H. U. Tietze, R. A. Pfeiffer, K. P. Grosse, H. Becker, H. Egger
Acta geneticae medicae et gemellologiae, Volume 26, pp 277-281; https://doi.org/10.1017/s0001566000009764

Abstract:
In three girls, aged 14, 15 and 16 years, the chromosome analysis revealed a morphologically abnormal, enlarged X-chromosome resembling in size and centromere position the chromosome no. 2. The translocation points were different in all three cases. The Barr-bodies were enlarged. In two girls a 45,X mosaicism (25% and 10%) was found in lymphocyte cultures.The length at birth was 43, 47 and 48 cm, and none of the girls was born before term. The main clinical abnormalities in all three cases were a marked growth retardation, slight morphological dysplasias, lack of sexual development and social immaturity. GH and Cortisol secretion during an insulin tolerance test were normal. LH and FSH were elevated and showed an exaggerated reaction on LH-RH. Oestrogens were low normal and androgens within the normal range. At laparatomy the gonads were found to be streak gonads. For two girls cell cultures of gonadal tissue were set up? the chromosome findings of which corresponded to those of the lymphocyte cultures.The abnormality of the gonosomes reported here seems to represent a special form of gonadal dysgenesis. Although the translocation points were different in the three patients and one had no mosaic, while the other two showed 45,X/46,XX mosaicism, the clinical and hormonal findings were nearly the same for all three girls.
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