Kezban Karabağ

De novo interstitial 3p21.31p14.2 duplication in a boy with esophageal atresia, talipes equinovarus, and global developmental delay: a case report

Background: Imbalances of chromosome 3p produce phenotypes that depend on the position and direction of the dosage change. The classic duplication 3p syndrome arises from distal gains, whereas the proximal interstitial region spanning 3p21.31 to 3p14.3 has been characterized almost exclusively through deletions. Inters...