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Article

Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome.

Journal of medical genetics - 1 Oct 2013

Bondy Carolyn, Bakalov Vladimir K, Cheng Clara, Olivieri Laura, Rosing Douglas R, Arai Andrew E

Abstract excerpt

BACKGROUND: Congenital heart disease (CHD) is a cardinal feature of X chromosome monosomy, or Turner syndrome (TS). Haploinsufficiency for gene(s) located on Xp have been implicated in the short stature characteristic of the syndrome, but the chromosomal region related to the CHD phenotype has not been established. DESIGN: We used cardiac MRI to diagnose cardiovascular abnormalities in four non-mosaic karyotype...

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Identifiers

PMID: 23825392
DOI: 10.1136/jmedgenet-2013-101720
PMCID: PMC3786649

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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