Hostname: page-component-8448b6f56d-dnltx Total loading time: 0 Render date: 2024-04-16T08:23:28.968Z Has data issue: false hasContentIssue false
  • English
  • Français

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

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.

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

Berges, W. H. et al. (1964). J. Pediat., 65: 103.CrossRefGoogle Scholar
Carr, D. H. (1965). Obstet. Gynec, 26: 308.Google Scholar
Fergusson-Smith, M. A., Handmaker, S. D. (1961). Observations on the satellited human chromosomes. Lancet, 2: 1362.CrossRefGoogle Scholar
Hall, B., Källén, B. (1964). Chromosome studies in abortuses and stillborn infants. Lancet, 1: 100.Google Scholar
Kelly, S. et al. (1965). Autosomal monosomy in a spontaneous abortion. Lancet, 1: 166.CrossRefGoogle Scholar
Kiossoglou, K. A. et al. (1964). Multiple chromosomal aberrations in a patient with acute granulocytic leukemia associated with Down's syndrome and twinning. Blood, 24: 134.CrossRefGoogle Scholar
Pawlowitzki, I. H. (1966). Chromosomenanomalie als Abortursache. Deutsch. Med. Wochenschr., 91: 1094.CrossRefGoogle Scholar
Zellweger, H., Abbo, G. (1965). Familial mosaicism attributable to a new gene. Lancet, 2: 455.CrossRefGoogle Scholar