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A Case of Familial Chromosomal Aberration with G Group Mosaic

Published online by Cambridge University Press:  01 August 2014

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

Summary

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A familial mosaicism involving chromosomes of group A. The father shows two clones: 46/normal and 47/trisomy A; the mother, 46/normal and 45/monosomy A. The two children are three clone mosaics: 45/monosomy A, 46/normal, 47/trisomy A.

Only one of the children is phenotypically abnormal: the other three members of the family have a normal appearance.

Relationship between karyotype and malformations is discussed. A tentative explanation is suggested.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 16 , Issue 1 , January 1967 , pp. 8 - 20
Copyright
Copyright © The International Society for Twin Studies 1967

References

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