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

@article{Mansouri2005LossOZ,
  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},
  year={2005},
  volume={13},
  pages={970-977}
}
  • 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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    References

    SHOWING 1-10 OF 24 REFERENCES
    Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
    • 98
    • PDF
    Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1.
    • 67
    • PDF
    [Monogenic causes of X-linked mental retardation].
    • 135
    Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
    • 361
    XLMR genes: update 1998.
    • 102
    First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.
    • 107
    Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
    • 71
    Prader‐Willi syndrome in a child with a balanced (X;15) de novo translocation
    • 3
    Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases.
    • 153
    Nonsyndromic X-linked mental retardation: where are the missing mutations?
    • 83