ArticleEuropean journal of pediatrics2008
A rare association of interrupted aortic arch type C and microdeletion 22q11.2.
Article in European journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 9 citations in OpenAlex.
- Investigation of copy number variation in children with conotruncal heart defects.Arquivos brasileiros de cardiologia · 2015Article
- A rare constellation: Interrupted aortic arch type C and confirmed 22q11 deletion (DiGeorge syndrome) managed with Yasui procedure in a neonate.Annals of pediatric cardiologyArticle
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Authors and funding
7 authors at 3 institutions in 3 countries.
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Abstract
Microdeletion 22q11.2 is associated with a variety of findings, and the most common are cardiac defects. It is very frequently associated with interrupted aortic arch (IAA) type B and very rarely with type A and type C. Here we report the first case of IAA type C associated with 22q11.2 deletion in Serbia and, to the best of our knowledge, the fourth case described worldwide so far. By this report we would like to point out that all patients with IAA type C who have additional features specific for 22q11.2 microdeletion syndrome should be screened for the presence of this deletion.
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