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}
}
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
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