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

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

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

Affiliation

Bondy C; Section on Epigenetics and Development, National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

J Med Genet ; 50(10): 662-5, 2013 Oct.

Article in En | MEDLINE | ID: mdl-23825392

Subject(s)

Aortic Coarctation; Aortic Valve/abnormalities; Chromosome Deletion; Chromosomes, Human, X; Heart Valve Diseases; Turner Syndrome/genetics; Turner Syndrome/pathology; Aortic Coarctation/etiology; Bicuspid Aortic Valve Disease; Chromosome Breakpoints; Chromosomes, Human, Pair 14; Female; Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/epidemiology; Heart Defects, Congenital/etiology; Heart Valve Diseases/etiology; Humans; Karyotype; Phenotype; Prevalence; Pulmonary Veins/abnormalities; Translocation, Genetic; Turner Syndrome/complications

Key words

Aneuploidy; Chromosomal; Congenital heart disease; Developmental

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aortic Coarctation / Aortic Valve / Turner Syndrome / Chromosome Deletion / Chromosomes, Human, X / Heart Valve Diseases Type of study: Diagnostic_studies / Etiology_studies / Prevalence_studies / Risk_factors_studies Limits: Female / Humans Language: En Journal: J Med Genet Year: 2013 Document type: Article Affiliation country: United States Country of publication: United kingdom

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