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A Case of Mosaicism with Fragile-X and XXY Components

Published online by Cambridge University Press:  02 January 2018

Saumitra Deb ,
Valerie A. Cowie  and
Carol Timberlake
Saumitra Deb
Affiliation:
Leicester Frith Hospital, Leicester LE3 9QE
Valerie A. Cowie*
Affiliation:
Academic Unit in Mental Handicap, Department of Psychological Medicine, University of Wales College of Medicine, Ely Hospital, Cardiff
Carol Timberlake
Affiliation:
Harperbury Hospital, Harper Lane, Radlett, Herts
*
Correspondence
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Abstract

The case of a 63-year-old severely mentally handicapped man is reported with chromosomal mosaicism. His karyotype was established as mosaic 46XY/47XXY with the fragile site present in a proportion of cells of both cell-lines. He showed phenotypic features which could be related both to the fragile-X and Klinefelter's syndromes.

Type
Brief Reports
Information
The British Journal of Psychiatry , Volume 150 , Issue 5 , May 1987 , pp. 700 - 702
Copyright
Copyright © 1987 The Royal College of Psychiatrists 

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References

Froster-Iskenius, U. Schwinger, E., Weigert, M. & Fonatsch, C. (1982) Replication pattern in XXY cells with fra(X). Human Genetics, 60, 278–280.CrossRefGoogle ScholarPubMed
Fryns, J. P., Kleczkowska, A., Kubien, E., Petit, P., Haspeslagh, M., Lindemans, I. & Van Den Berghe, H. (1983) XY/XXY mosaicism and fragile X syndrome. Annates Genetiques, 26, 251–253.Google ScholarPubMed
Fryns, J. P., Kleczkowska, A., Wolfs, I. & Van Den Berghe, H. (1984) Klinefelter syndrome and two fragile X chromosomes. Clinical Genetics., 26, 445–447.Google Scholar
Wilmot, P. L., Shapiro, L. & Duncan, P. A. (1980) The Xq27 fragile site and 47.XXY. American Journal of Human Genetics. (Suppl.) 94A: 285.Google Scholar
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