Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.

@article{Hunter2009FunctionalDO,
  title={Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.},
  author={Matthew Hunter and Damien L. Bruno and David J Amor},
  journal={American journal of medical genetics. Part A},
  year={2009},
  volume={149A 8},
  pages={1763-7}
}
Extra structurally abnormal chromosomes (ESACs) derived from the X chromosome are rare. We report a non-mosaic ESAC derived from the X chromosome in a 3-year-old female who presented with early hypotonia, developmental delay, hypertelorism, low set ears, and small hands and feet. The breakpoints of the ESAC were mapped by SNP microarray to Xp11.1-p11.22, a region encompassing 7.17 Mb and containing 110 known or putative genes and excluding the X-inactivation center. A review of other reported… CONTINUE READING

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