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Unexpected Findings with the New Chromosome Banding Techniques in a Patient Formerly Diagnosed as Having G-Deletion Syndrome II

Published online by Cambridge University Press:  01 August 2014

E. Orye  and
M. Craen
E. Orye*
Affiliation:
Laboratory of Cytogenetics, Department of Pediatrics, Rijksuniversiteit Gent, Belgium
M. Craen
Affiliation:
Laboratory of Cytogenetics, Department of Pediatrics, Rijksuniversiteit Gent, Belgium
*
Laboratory of Cytogenetics, Department of Pediatrics, Rijksuniversiteit, De Pintelaan 135, 9000 Ghent, Belgium

Abstract

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A girl is described, who, upon her first admission to our pediatric department in 1965, was supposed to have G-deletion syndrome II on the base of the chromosome findings in routine orcein-stained preparations and her clinical aspect. When, however, in 1972 a Q- and G-banding analysis was performed, the patient seemed to be a t(14q+; 22q—) translocation carrier.

These findings are discussed in relation to the known heterogeneity of the clinical picture of patients previously reported as having a G-deletion syndrome and in whom no banding studies were done.

Finally, the need for more extensive studies with the different techniques is stressed, particularly, in cases of Gq— chromosomes, of which the familial occurrence is suggestive of a hidden reciprocal translocation.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 24 , Issue 1-2 , January 1975 , pp. 75 - 82
Copyright
Copyright © The International Society for Twin Studies 1975

References

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