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

Abstract excerpt

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...

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