Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.

@article{Dennis2006ClinicalFI,
  title={Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.},
  author={Nicholas Robert Dennis and Marijcke W M Veltman and Russell Thompson and Erin Craig and Patrick F. Bolton and Nick S. T. Thomas},
  journal={American journal of medical genetics. Part A},
  year={2006},
  volume={140 5},
  pages={434-41}
}
We present clinical data on 33 subjects with additional copies of the Prader-Willi-Angelman critical region (PWACR) contained in a supernumerary marker chromosome (SMC). Twenty-three subjects had a typical large non-mosaic SMC(15) containing two copies of the PWACR. They showed a variable but generally severe phenotype of learning disability and autism, with seizures in approximately two-thirds. The other 10 differed from this typical pattern in respect of mosaicism, variation in copy number… CONTINUE READING

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