De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome

American Journal of Medical Genetics

Volumn 90, Issue 4, 2000, Pages 270-275

  Von Dadelszen, Peter ^a   Chitayat, David ^b,c   Winsor, Elizabeth J T ^b,c   Cohen, Howard ^a   MacDonald, Cathy ^d   Taylor, Glen ^d   Rose, Toby ^a   Hornberger, Lisa K ^d,e  

^a WOMEN S COLLEGE HOSPITAL   (Canada)

^b UNIVERSITY HEALTH NETWORK   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

Chromosome 6; Chromosome 7; Elastin; FISH; Hydrops fetalis; Prenatal diagnosis; Supravalvular aortic stenosis; Translocation; Williams syndrome

Indexed keywords

AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CARDIOVASCULAR DISEASE; CASE REPORT; CHROMOSOME 6; CHROMOSOME 7; CHROMOSOME TRANSLOCATION; DISEASE SEVERITY; FETUS; FETUS ECHOGRAPHY; FETUS HYDROPS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME;

AORTIC VALVE STENOSIS; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; KARYOTYPING; MAGNETIC RESONANCE IMAGING; TRANSLOCATION, GENETIC; ULTRASONOGRAPHY, PRENATAL; WILLIAMS SYNDROME;

HYDROPS;

EID: 0033980965     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000214)90:4<270::AID-AJMG2>3.0.CO;2-R     Document Type: Article

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