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

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 patients with karyotypes that cause functional disomy of proximal Xp allows delineation of a common phenotype comprising early hypotonia, cognitive impairment, hypertelorism, myopia, small hands and feet and abnormal external ears. © 2009 Wiley‐Liss, Inc.