Hostname: page-component-cd9895bd7-q99xh Total loading time: 0 Render date: 2024-12-25T03:05:37.084Z Has data issue: false hasContentIssue false
  • English
  • Français

On a Case of Rare Chromosomal Aberration1

Published online by Cambridge University Press:  01 August 2014

L. Gedda ,
F. Calabresi ,
G. Del Porto ,
A. Del Porto-Mercuri ,
A. Alfieri ,
G. Torrioli-Riggio  and
L. Romei
L. Gedda
Affiliation:
“G. Mendel” Institute of Medical Genetics and Twin Studies, Rome
F. Calabresi
Affiliation:
“G. Mendel” Institute of Medical Genetics and Twin Studies, Rome
G. Del Porto
Affiliation:
“G. Mendel” Institute of Medical Genetics and Twin Studies, Rome
A. Del Porto-Mercuri
Affiliation:
“G. Mendel” Institute of Medical Genetics and Twin Studies, Rome
A. Alfieri
Affiliation:
“G. Mendel” Institute of Medical Genetics and Twin Studies, Rome
G. Torrioli-Riggio
Affiliation:
“G. Mendel” Institute of Medical Genetics and Twin Studies, Rome
L. Romei
Affiliation:
“G. Mendel” Institute of Medical Genetics and Twin Studies, Rome

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.

The Authors report a case of translocation 21/21 in a woman who, after two miscarriages, gave birth to a mongoloid daughter — dead a few days after birth. The chromosomal aberration was present in 100% of the plates examined.

Occasional chromosomal alterations, found in the patient's karyotype, might be held responsible of small phenotypic alterations. No alteration was found in the husband's karyotype.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 16 , Issue 1 , January 1967 , pp. 1 - 7
Copyright
Copyright © The International Society for Twin Studies 1967

Footnotes

1

Paper read at the VI International Congress of Pathology (Rome, October 3-8, 1966).

References

Dallaire, L. et al. (1962). Cit. by Turpin & Lejeune, 1965.Google Scholar
Forssman, ., Lehman, O. (1962). Chromosome studies in eleven families with mongolism in more than one member. Acta Paed., 51: 180.Google Scholar
Fraccaro, M. et al. (1960). Chromosomal abnormalities in father and mongol child. Lancet, 1: 724.CrossRefGoogle ScholarPubMed
Hamerton, J. L. et al. (1961). Chromosome studies in detection of parents with high risk of second child with Down's syndrome. Lancet, 2: 788.CrossRefGoogle ScholarPubMed
Muckherjee, B. B. et al. (1900). Cit. by Turpin & Lejeune, 1965.Google Scholar
Penrose, L. S. et al. (1960). Chromosomal translocations in mongolism and in normal relatives. Lancet, 2: 409.Google Scholar
Pfeiffer, K. A. (1963). The transmission of G/G translocation. Lancet, 1: 1163.Google Scholar
Polani, P. E. et al. (1960). A mongol girl with 46 chromosomes. Lancet, 1: 721.CrossRefGoogle ScholarPubMed
Shaw, M. W. (1962). Cit. by Turpin & Lejeune, 1965.Google Scholar
Turpin, R. et al. (1959). Aberrations chromosomiques et maladies humaines la polydyspondylie à 45 chromosomes. C. R. Acad. Sci. Paris, 248: 3636.Google ScholarPubMed
Turpin, R. & Lejeune, J. (1965). Les Chromosomes Humains. Ed. Gauthier Villars, Paris.Google Scholar
Zellweger, et al. (1962). Familial mongolism. Lancet, 2: 660.Google Scholar