Author:
Deb Saumitra,Cowie Valerie A.,Timberlake Carol
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.
Publisher
Royal College of Psychiatrists
Subject
Psychiatry and Mental health
Reference4 articles.
1. The Xq27 fragile site and 47.XXY;Wilmot;American Journal of Human Genetics.,1980
2. Klinefelter syndrome and two fragile X chromosomes
3. XY/XXY mosaicism and fragile X syndrome;Fryns;Annates Genetiques,1983
4. Replication pattern in XXY cells with fra(X)
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