Hostname: page-component-cd9895bd7-q99xh Total loading time: 0 Render date: 2024-12-25T01:19:27.208Z Has data issue: false hasContentIssue false
  • English
  • Français

Studi Cromosomici nella Sindrome di Turner

Published online by Cambridge University Press:  01 August 2014

F. Franceschini ,
B. Dallapiccola ,
N. Ricci  and
B. Ventimiglia
F. Franceschini
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica dell'Università di Ferrara (Italia) Cattedra di Genetica Umana
B. Dallapiccola
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica dell'Università di Ferrara (Italia) Cattedra di Genetica Umana
N. Ricci
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica dell'Università di Ferrara (Italia) Cattedra di Genetica Umana
B. Ventimiglia
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica dell'Università di Ferrara (Italia) Cattedra di Genetica Umana

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Cytogenetic studies were performed in six clinically typical cases of Turner's syndrome. In five of them an XO chromosome complement was observed. In the sixth case the chromosome number appeared normal, but karyotype analysis revealed the presence of three large metacentric chromosomes similar to No. 3. A diagnosis of presumptive isochromosome for the long arm of X was suggested by the autoradiographic evidence of late replication and by the presence of larger than normal Barr bodies and drumsticks.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 14 , Issue 2 , April 1965 , pp. 182 - 199
Copyright
Copyright © The International Society for Twin Studies 1965

References

Bibliografia

Albright, F., Smith, P. H., Fraser, R.: A syndrome characterized by primary ovarian insufficiency and decreased stature. Report of 11 cases with a digression on hormonal control on axillary and pubic hair. Amer. J. med. Sci., 204: 625, 1942.Google Scholar
Barr, M. L.: Sex chromatin and phenotype in man. Science, 130: 679, 1959.CrossRefGoogle ScholarPubMed
Boyden, S. V.: Absorption of protein on erythrocytes treated with tannic acid and subsequent hemagglutination by antiprotein sera. J. Exper. Med., 93: 107, 1951.Google Scholar
Burch, P. R. J., Rowell, N. R.: Autoimmunity. Aetiological aspects of chronic discoid and systemic lupus erythematosus, systemic sclerosis, and Hashimoto's tyroiditis. Lancet, 2: 507, 1963.Google Scholar
Burch, P. R. J., Burwell, R. G., Rowell, N. R.: Autoimmunity and chromosomal aberrations. Lancet, 1: 720, 1964.Google Scholar
Burgio, G. R., Severi, F., Rossoni, R., Vaccaro, R.: Mongolism and thyroid autoimmunity. Lancet, 1: 166, 1965.Google Scholar
Court Browm, W. M., Harnden, D. G., Jacobs, P. A., McLean, N., Mantle, D. J.: Abnormalities of the sex chromosome complement in man. Her Majesty's Stationery Office, London, 1964.Google Scholar
Cummins, H., Midlo, C.: Fingerprints, palms and soles. Dover Publications Inc. New York, 1961.Google Scholar
Day, R. W., Wright, S. W.: Thyroid autoantibodies and sex-chromosome abnormalities. Lancet, 1: 667, 1964.CrossRefGoogle ScholarPubMed
Engel, E., Forbes, A. P.: Abnormal medium sized metacentric chromosome in woman with primary gonadal failure. Lancet, 2: 1004, 1961.CrossRefGoogle Scholar
Fialkow, P. J.: Autoimmunity: a predisposing factor to chromosomal aberrations? Lancet, 1: 474, 1964.CrossRefGoogle ScholarPubMed
Ford, G. E., Jones, K. W., Polani, P. E., De Almeida, J. C., Briggs, J. H.: A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet, 1: 711, 1959.Google Scholar
Fraccaro, M., Kaijser, K., Lindsten, J.: Chromosome complement in gonadal dysgenesis (Turner's syndrome). Lancet, 1: 886, 1959.Google Scholar
Fraccaro, M., Ikkos, D., Lindstens, J., Luft, R., Kaijser, K.: A new type of chromosomal abnormality in gonadal dysgenesis. Lancet, 2: 1144, 1960.CrossRefGoogle Scholar
Fraccaro, M., Lindsten, J., Mittwoch, U., Zonta, L.: Size of drumsticks in patients with abnormalities of the X-chromosome. Lancet, 2: 43, 1946.Google Scholar
Gartler, S. M., Sparkes, R. S.: The Lyon-Beutler hypothesis and isochromosome-X patients with the Turner's syndrome. Lancet, 2: 411, 1963.Google Scholar
Giannelli, F.: The pattern of X-chromosome deoxyribonucleic acid synthesis in two women with abnormal sex-chromosome complements. Lancet, 1: 863, 1963.CrossRefGoogle ScholarPubMed
Gilbert, C. W., Muldal, S., Lajtha, L. G., Rowley, J.: Time sequence of human chromosome duplication. Nature (Lond.), 195: 869, 1962.Google Scholar
Grouchy, J. de, Lamy, M.: Mosaïque X/X. Mosaïque physiologique chez la femme. Ann. Pédiat., 39: 153, 1963.Google Scholar
Hall, R., Saxena, K. M., Owen, S. G.: A study of the parents of patients with Hashimoto's disease. Lancet, 2: 1291, 1962.CrossRefGoogle ScholarPubMed
Hirschhorn, K., Firschein, I. L.: Genetic activity of the X-chromosome in man. Trans. New York Acad. Sci., 26: 545, 1964.Google Scholar
Jacobs, P. A., Harnden, D. G., Court Brown, W. M., Goldstein, J., Close, H. G., McGregor, T. N., McLean, N., Strong, J. A.: Abnormalities involving the X-chromosome in women. Lancet, 1: 1213, 1960.CrossRefGoogle ScholarPubMed
Jacobs, P. A., Harnden, D. G., Buckton, K. E., Court Brown, W. M., King, M. J., McBride, J. A., McGregor, T. N., McLean, N.: Cytogenetic studies in primary amenorrhoea. Lancet, 1: 1183, 1961.CrossRefGoogle ScholarPubMed
Larizza, P., Chirico, G., Senini, G.: La sindrome di Turner: sindrome dell'ovaio rudimentale. Medicina, 6: 1, 1956.Google Scholar
Lindsten, J.: The nature and origin of X chromosome aberrations in Turner's syndrome. Almqvist & Wiksell, Stockholm, 1963.Google Scholar
Lyon, M. F.: Sex chromatin and gene action in the mammalian X-chromosome. Amer. J. hum. Genet., 14: 135, 1962.Google Scholar
Lyon, M. F.: Lyonisation of the X chromosome. Lancet, 2: 1120, 1963.Google Scholar
McLean, N.: The drumsticks of polymorphonuclear leucocytes in sex-chromosome abnormalities. Lancet, 1: 1154, 1962.CrossRefGoogle Scholar
Miller, O. J., Mukherjee, B. B., Bader, S., Christakos, A. C.: Autoradiographic studies of X-chromosome duplication in an XO/X-isochromosome-X mosaic human female. Nature (Lond.), 200: 928, 1963.CrossRefGoogle Scholar
Mittwoch, U.: Sex chromatin. J. med. Genet., 1: 50, 1964.Google Scholar
Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., Hungerford, D. A.: Chromosome preparation of leukocytes cultured from human peripheral blood. Exp. Cell Res., 20: 613, 1960.Google Scholar
Morishima, A., Grumbach, M. M., Taylor, J. H.: Asynchronous duplication of human chromosomes and the origin of sex chromatin. Proc. nat. Acad. Sci. (Wash)., 48: 756, 1962.Google Scholar
Muldal, S., Gilbert, C. W., Lajtha, L. G., Lindsten, J., Rowley, J., Fraccaro, M.: Tritiated thymidine incorporation in an isochromosome for the long arm of the X chromosome in man. Lancet, 2: 861, 1963.CrossRefGoogle Scholar
Polani, P. E., Hunter, W. F., Lennox, B.: Chromosomal sex in Turner's syndrome with coartaction of the aorta. Lancet, 2: 120, 1954.CrossRefGoogle Scholar
Robertson, J., Stuart, J. S. S., Mellon, J. P.: Cit. in Williams et al., 1964.Google Scholar
Sparkes, R. S., Motulsky, A. G.: Hashimoto's disease in Turner's syndrome with isochromosome X. Lancet, 1: 947, 1947.Google Scholar
Turner, H. H.: A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology, 23: 566, 1938.Google Scholar
Wilkins, L., Fleischmann, W.: Ovarian agenesis; pathology, associated clinical symptoms, and the bearing on the theories of sex differentiation. J. clin. Endocr., 4: 357, 1944.Google Scholar
Wilkins, L., Grumbach, M. M., Van Wyk, J. J.: Chromosomal sex in “ovarian agenesis”. J. clin. Endocr., 14: 1270, 1954.CrossRefGoogle ScholarPubMed
Williams, E. D., Engel, E., Forbes, A. P.: Thyroiditis and gonadal dysgenesis. New Engl. J. Med., 370: 805, 1964.CrossRefGoogle Scholar
Williams, E. D., Autoimmunity and chromosomal aberrations. Lancet, 1: 664, 1964.CrossRefGoogle Scholar
Zampa, G. A.: La patologia della determinazione e della differenziazione del sesso nell'uomo. Cappelli, Bologna, 1963.Google Scholar