Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation

Abstract

Global developmental delay and mental retardation are associated with X-linked disorders including Hunter syndrome (mucopolysaccharidosis type II) and Fragile X syndrome (FXS). Single nucleotide mutations in the iduronate 2-sulfatase (IDS) gene at Xq28 most commonly cause Hunter syndrome while a CGG expansion in the FMR1 gene at Xq27.3 is associated with… (More)
DOI: 10.1186/1471-2350-14-49

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