Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21–q22.1
✍ Scribed by Toshiyuki Yamamoto; Yuri Dowa; Hideaki Ueda; Motoyoshi Kawataki; Toshihide Asou; Yuki Sasaki; Naoki Harada; Naomichi Matsumoto; Rumiko Matsuoka; Kenji Kurosawa
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 156 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
Abstract
A newborn male had an interstitial deletion of 16q21–q22.1 accompanying tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries (MAPCA), dysmorphic craniofacial features, failure to thrive, and severe psychomotor developmental delay. When the deletion in this patient and other reported patients are compared, the 16q22 region appears to be the smallest region for 16q deletion syndrome. Since over 50% of patients with the deletion of 16q22 region have congenital heart disease, there may be a responsible gene in this region. © 2008 Wiley‐Liss, Inc.