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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

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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

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