Literature DB >> 3651709

A case of mosaicism with fragile-X and XXY components.

S Deb1, V A Cowie, C Timberlake.   

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.

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Year:  1987        PMID: 3651709     DOI: 10.1192/bjp.150.5.700

Source DB:  PubMed          Journal:  Br J Psychiatry        ISSN: 0007-1250            Impact factor:   9.319


  1 in total

1.  45,X/46,XY mosaicism and fragile X syndrome.

Authors:  Shannon L Banes; Michael L Begleiter; Merlin G Butler
Journal:  Am J Med Genet A       Date:  2003-01-01       Impact factor: 2.802

  1 in total

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