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Article

Christianson syndrome in a patient with an interstitial Xq26.3 deletion.

American journal of medical genetics. Part A - 1 Nov 2011

Tzschach Andreas, Ullmann Reinhard, Ahmed Alischo, Martin Thomas, Weber Georg, Decker-Schwering Oliver, Pauly Fernand, Shamdeen Mohammed Ghiath, Reith Wolfgang, Oehl-Jaschkowitz Barbara

Abstract excerpt

Interstitial deletions of chromosome band Xq26.3 are rare. We report on a 2-year-old boy in whom array comparative genomic hybridization analysis revealed an interstitial 314 kb deletion in Xq26.3 affecting SLC9A6 and FHL1. Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental...

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Source

Identifiers

PMID: 21932316
DOI: 10.1002/ajmg.a.34230

Genes

FHL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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