Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

  title={Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C},
  author={B. Nowakowska and E. Obersztyn and K. Szymańska and M. Bekiesińska-Figatowska and Z. Xia and Christian B. Ricks and E. Bocian and D. Stockton and K. Szczałuba and M. Nawara and A. Patel and D. Scott and S. Cheung and T. P. Bohan and P. Stankiewicz},
  journal={American Journal of Medical Genetics Part B: Neuropsychiatric Genetics},
  • B. Nowakowska, E. Obersztyn, +12 authors P. Stankiewicz
  • Published 2010
  • Medicine
  • American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
  • We present four patients, in whom we identified overlapping deletions in 5q14.3 involving MEF2C using a clinical oligonucleotide array comparative genomic hybridization (CGH) chromosomal microarray analysis (CMA). In case 1, CMA revealed an ∼140 kb deletion encompassing the first three exons of MEF2C in a 3‐year‐old patient with severe psychomotor retardation, periodic tremor, and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG… CONTINUE READING
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