X‐linked intellectual disability related genes disrupted by balanced X‐autosome translocations

  title={X‐linked intellectual disability related genes disrupted by balanced X‐autosome translocations},
  author={M. Moys{\'e}s-Oliveira and R. S. Guilherme and V. A. Meloni and Adriana Di Battista and C. B. de Mello and S. Bragagnolo and D. Moretti-Ferreira and N. Kosyakova and T. Liehr and G. Carvalheira and M. Melaragno},
  journal={American Journal of Medical Genetics Part B: Neuropsychiatric Genetics},
  pages={669 - 677}
  • M. Moysés-Oliveira, R. S. Guilherme, +8 authors M. Melaragno
  • Published 2015
  • Biology, Medicine
  • American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
  • Detailed molecular characterization of chromosomal rearrangements involving X‐chromosome has been a key strategy in identifying X‐linked intellectual disability‐causing genes. We fine‐mapped the breakpoints in four women with balanced X‐autosome translocations and variable phenotypes, in order to investigate the corresponding genetic contribution to intellectual disability. We addressed the impact of the gene interruptions in transcription and discussed the consequences of their functional… CONTINUE READING
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