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Article

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

American journal of medical genetics. Part A - 1 Dec 2016

Prakash Siddharth K, Bondy Carolyn A, Maslen Cheryl L, Silberbach Michael, Lin Angela E, Perrone Laura, Limongelli Giuseppe, Michelena Hector I, Bossone Eduardo, Citro Rodolfo, Lemaire Scott A, Body Simon C, Milewicz Dianna M

Abstract excerpt

Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes...

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Share to Chromosomes, Human, X
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Genes, X-Linked

Share to Glucose Transport Proteins, Facilitative

Share to Heart Defects, Congenital

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Identifiers

PMID: 27604636
DOI: 10.1002/ajmg.a.37953
PMCID: PMC5115959

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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