Screening for 22q11 deletion syndrome among patients with congenital heart defects

Sao Paulo Med J. 2014;132(2):125-6. doi: 10.1590/1516-3180.2014.1322655.

Authors

Rafael Fabiano Machado Rosa¹, Rosana Cardoso Manique Rosa², Patrícia Trevisan², Carla Graziadio³, Marileila Varella-Garcia⁴, Giorgio Adriano Paskulin³, Paulo Ricardo Gazzola Zen³

Affiliations

¹ Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
² Postgraduate Program on Pathology, Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
³ Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
⁴ University of Colorado Denver, Aurora, Colorado, United States.

No abstract available

Publication types

Letter

MeSH terms

22q11 Deletion Syndrome / diagnosis*
Adolescent
Child
Child, Preschool
Female
Heart Defects, Congenital / genetics*
Humans
Infant
Infant, Newborn
Male
Mass Screening / methods*
Predictive Value of Tests
ROC Curve
Reproducibility of Results

Grants and funding

P30 CA046934/CA/NCI NIH HHS/United States