Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The...

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Bibliographic Details
Main Authors: Marcília S. Grassi, Cristina M. A. Jacob, Leslie D. Kulikowski, Antonio C. Pastorino, Roberta L. Dutra, Nana Miura, Marcelo B. Jatene, Stephanie P. Pegler, Chong A. Kim, Magda Carneiro-Sampaio
Format: Article
Language:English
Published: Sociedade Brasileira de Cardiologia (SBC) 2014-11-01
Series:Arquivos Brasileiros de Cardiologia
Subjects:
Síndrome de DiGeorge
Deleção Cromossômica
Cardiopatias Congenitas
Hipocalcemia
Cromossomos Humanos
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004&lng=en&tlng=en

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