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Article

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

BMC medical genetics - 1 May 2013

Marshall Lauren S, Simon Julie, Wood Tim, Peng Mei, Owen Renius, Feldman Gary S, Zaragoza Michael V

Abstract excerpt

BACKGROUND: 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 Fragile X syndrome. Gene deletions of the...

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Source

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Identifiers

PMID: 23634718
DOI: 10.1186/1471-2350-14-49
PMCID: PMC3643848

Genes

FMR1
IDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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