• gene
  • Since nine further reported cases of 20p deletion are clinically similar, we propose AWS as a further 'contiguous gene syndrome' and assign it to an approximately 8-Mb-large chromosome 20p segment (provisionally, p11.23-p12.1). (epfl.ch)
  • Alagille syndrome and the Jagged1 gene. (invitae.com)
  • deletion
  • High-resolution chromosome analysis of a 19-year-old female proband with syndromic intrahepatic ductular hypoplasia (Alagille syndrome, AWS) revealed an interstitial deletion of chromosome 20p with breakpoints provisionally located in or close to p11.22 and p12.2. (epfl.ch)
  • hypoplasia
  • [ 2 ] Then in 1975, Alagille et al described several patients with hypoplasia of the hepatic ducts with associated features. (medscape.com)
  • occur
  • Congenital cardio-vascular malformations, the most frequent birth defect, can occur as isolated events, but are frequently presented clinically within the context of a constellation of defects that involve multiple organs and that define a specific syndrome. (semanticscholar.org)