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Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment
Author(s) -
Hunter Matthew,
Bruno Damien,
Amor David J.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32954
Subject(s) - hypertelorism , hypotonia , macrocephaly , genetics , phenotype , medicine , biology , anatomy , gene
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.