The British Journal of Psychiatry 150: 700-702 (1987)
© 1987 The Royal College of Psychiatrists
A case of mosaicism with fragile-X and XXY components
S Deb, VA Cowie and C Timberlake
Leicester Frith Hospital.
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.