Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

  title={Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation},
  author={M. Mansouri and L. Marklund and P. Gustavsson and E. Davey and B. Carlsson and C. Larsson and Irene White and Karl-Henrik Gustavson and N. Dahl},
  journal={European Journal of Human Genetics},
  • M. Mansouri, L. Marklund, +6 authors N. Dahl
  • Published 2005
  • Biology, Medicine
  • European Journal of Human Genetics
  • X-linked mental retardation (XLMR) affects one in 600 males and is highly heterogeneous. We describe here a 29-year-old woman with severe nonsyndromic mental retardation and a balanced reciprocal translocation between chromosomes X and 15 [46,XX,t(X;15)(q13.3;cen)]. Methylation studies showed a 100% skewed X-inactivation in patient-derived lymphocytes indicating that the normal chromosome X is retained inactive. Physical mapping of the breakpoints localised the Xq13.3 breakpoint to within 3.9… CONTINUE READING
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