## Abstract A newborn male had an interstitial deletion of 16q21โq22.1 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 d
Pulmonary Atresia with Intact Ventricular Septum and Major Aortopulmonary Collaterals: Association with Deletion 22q11.2
โ Scribed by C. Li; A. E. Chudley; R. Soni; A. Divekar
- Book ID
- 105937377
- Publisher
- Springer
- Year
- 2003
- Tongue
- English
- Weight
- 91 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0172-0643
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๐ SIMILAR VOLUMES
## Abstract Cardiac catheterization is infrequently required in babies with pulmonary atresia with intact ventricular septum. The main indications are to decide on the best form of treatment, the options being determined by the right ventricular as well as infundibular morphology and the presence o
Pulmonary atresia with intact ventricular septum (PA/IVS) is a rare disease, accounting for less than 3% of all congenital heart lesions. The cause of PA/IVS is unknown. We report the occurrence of two first cousins with PA/IVS, suggestive of autosomal dominant inheritance with incomplete penetrance