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Studio Citogenetico di 140 Pazienti affetti da Sindrome di Down

Published online by Cambridge University Press:  01 August 2014

N. Ricci ,
B. Ventimiglia  and
B. Dallapiccola
N. Ricci
Affiliation:
Clinica Medica Generale e Terapia Medica dell'Università di Ferrara
B. Ventimiglia
Affiliation:
Clinica Medica Generale e Terapia Medica dell'Università di Ferrara
B. Dallapiccola
Affiliation:
Clinica Medica Generale e Terapia Medica dell'Università di Ferrara

Summary

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The Authors report the results of a cytogenetical investigation on a group of 140 Down's syndrome patients: nine of them had a translocation (D/G or G/G) and four a mosaic (trisomy 21-22/apparently normal); a mongol girl had 48 chromosomes due to the presence of a small centric chromosome and 21-22 trisomy. All other patients had a regular 21-22 trisomy. Some additional morphological anomalies are described, but interpreted as being expression of the normal human karyotype's variability.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 16 , Issue 4 , October 1967 , pp. 376 - 383
Copyright
Copyright © The International Society for Twin Studies 1967

References

Bibliografia

Benirschke, K. et al. (1963). Chromosome analysis of 73 mongoloids. Hum. Chr. Newsl., 9: 10.Google Scholar
Bovi, A. (1966). Ricerche citogenetiche su di un gruppo di psicotici. G. Psichiat. Neuropat., 94: 107.Google Scholar
Breg, W. R. et al. (1962). Chromosomal translocations in patients with mongolism and their normal relatives. New Engl. J. Med., 266: 845.CrossRefGoogle ScholarPubMed
Chitham, R. G., MacIver, E. (1965). A cytogenetic and statistical survey of 105 cases of mongolism. Ann. Hum. Genet. (London), 28: 309.CrossRefGoogle ScholarPubMed
Court Brown, W. M. et al. (1965). Chromosome studies on randomly chosen men and women. Lancet, 2: 561.CrossRefGoogle Scholar
Court Brown, W. M. et al. (1966). Chromosome Studies on Adults. Cambridge University Press.Google Scholar
Dekaban, A. S. et al. (1963). Chromosome studies in mongoloids and their families. Cytogenetics, 2: 61.CrossRefGoogle ScholarPubMed
Edgren, J. et al. (1966). Cytogenetic study of seventythree patients with Down's syndrome. J. Ment. Def. Res., 10: 47.Google Scholar
Edwards, J. H. et al. (1963). Sporadic mongols with translocations. Lancet, 2: 902.CrossRefGoogle Scholar
Giannelli, F. et al. (1965). Cytogenetics of Down's syndrome (Mongolism) - II. The frequency of interchange trisomy in patients born at a maternal age of less than 30 years. Cytogenetics, 4: 186.CrossRefGoogle Scholar
Gripenberg, U. (1964). Size variation and orientation of the human Y chromosome. Chromosoma (Berl.), 15: 618.CrossRefGoogle ScholarPubMed
Grouchy De, J., Roubib, M. (1965). Cinq cas de translocations dans un échantillon de 57 trisomiques 21. Ann. Genet., 8: 65.Google Scholar
Gustavson, K. H. (1964). Down's Syndrome. A clinical and cytogenetical investigation. Almqvist & Wiksells, Uppsala.Google Scholar
Hall, B. (1964). Mongolism in newborns. Acta Paediat. (Stockholm), Suppl. 154.Google Scholar
Hamerton, G. L. et al. (1965). Cytogenetics of Down's syndrome. I. Data on a consecutive series of patients referred for counselling and diagnosis. Cytogenetics, 4: 171.CrossRefGoogle ScholarPubMed
Hayashi, T. (1963). Karyotype analysis of 83 cases of Down's syndrome in Harris County, Texas. Texas Rep, Biol. Med., 21: 28.Google Scholar
Haylock, J. et al. (1963). Cit. Polani et al. (1965).Google Scholar
Jacobs, P. A. et al. (1964). Cytogenetic studies in leucocytes on the general population: subjects of age 65 years and more. Ann. Hum. Genet. (London), 27: 353.CrossRefGoogle Scholar
Lehmann, O. et al. (1962). Chromosome studies of persons with mongolism (Down's syndrome) born to young mothers. Acta Soc. Med. Upsalien., 67: 285.Google ScholarPubMed
Makino, S. (1963). Chromosome constitutions of congenital syndromes. Hum. Chr. Newsl., 9: 16.Google Scholar
Mellmann, W. J. (1962). Cit. Polani et al. (1965).Google Scholar
Miller, O. J. et al. (1962). Normal variations in the human karyotype. Trans. N. Y. Acad. Sci., 24; 372.CrossRefGoogle ScholarPubMed
Pfeiffer, R. A. (1966). Résultats d'une étude cytogénétique et clinique de 312 mongoliens: signification des translocations et mosaïque. Ann. Génét., 9: 94.Google Scholar
Polani, P. E. et al. (1965) Cytogenetics of Down's syndrome (mongolism) III. Frequency of interchange trisomics and mutation rate of chromosome interchanges. Cytogenetics, 4: 192.CrossRefGoogle Scholar
Richards, B. W. et al. (1965). Cytogenetic survey of 225 patients diagnosed clinically as mongols. J. Ment. Defic. Res., 9: 245.Google ScholarPubMed
Rosner, F. et al. (1965). Biochemical differentiation of trisomie Down's syndrome (mongolism) from that due to translocation. New Engl, J. Med., 273: 1356.CrossRefGoogle ScholarPubMed
Scherz, R. G. (1962). Negro female mongol with 46 chromosomes. Lancet, 2: 882.CrossRefGoogle Scholar
Sergovich, F. R. (1962). Chromosome analysis of mongoloid defectives. Hum, Chr. Newsl., 8: 10.Google Scholar
Sergovich, F. R. (1963). Chromosome analysis of mongoloid defectives. Hum. Chr. Newsl., 9: 6.Google Scholar
Sergovich, F. R. (1963). Cromosome analysis of mongoloid defectives. Hum. Chr. Newsl., 10: 88.Google Scholar
Sergovich, F. R. et al. (1964). Twelve unrelated translocation mongols: cytogenetic, genetic and parental age data. Cytogenetics, 3; 34.CrossRefGoogle ScholarPubMed