W e describe an infant with a deletion of 8q21+22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral
β¦ LIBER β¦
Association of deletion 22 and trisomy 21: A likely random association in patients with conotruncal heart defects
β Scribed by Maria Cristina Digilio; Bruno Dallapiccola; Bruno Marino
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 30 KB
- Volume
- 134A
- Category
- Article
- ISSN
- 1552-4825
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