Choledochal Cyst with 17q12 Chromosomal Duplication.

  title={Choledochal Cyst with 17q12 Chromosomal Duplication.},
  author={Radana Kotalov{\'a} and Petra Dusatkova and Jana Dr{\'a}bov{\'a} and Lenka Elblov{\'a} and Tom{\'a}{\vs} Dědi{\vc} and Ondřej Cinek and Jan Lebl and Stepanka Pruhova},
  journal={Annals of human genetics},
  volume={82 1},
The 17q12 chromosomal region carries the HNF1B gene, mutations of which cause various conditions. When searching for HNF1B/17q12 rearrangements among children with biliary atresia and/or choledochal cysts, we identified a male proband carrying a 17q12 duplication spanning 1698 kb that included 24 genes from TBC1D3C to HNF1B. The boy presented with… CONTINUE READING