• DOI:10.1007/s00246-013-0694-4
Corpus ID: 42968685

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

@article{Peyvandi201322q112DI,
  title={22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases},
  author={S. Peyvandi and P. Lupo and J. Garbarini and Stacy Woyciechowski and S. Edman and B. Emanuel and L. Mitchell and E. Goldmuntz},
  journal={Pediatric Cardiology},
  year={2013},
  volume={34},
  pages={1687-1694}
}

• S. Peyvandi, P. Lupo, +5 authors E. Goldmuntz
• Published 2013
• Medicine
• Pediatric Cardiology

The 22q11.2 deletion syndrome is characterized by multiple congenital anomalies including conotruncal cardiac defects. Identifying the patient with a 22q11.2 deletion (22q11del) can be challenging because many extracardiac features become apparent later in life. We sought to better define the cardiac phenotype associated with a 22q11del to help direct genetic testing. 1,610 patients with conotruncal defects were sequentially tested for a 22q11del. The counts and frequencies of primary lesions… Expand

View on Springer

europepmc.org

Save to Library

Create Alert

Cite

Launch Research Feed