Choledochal Cyst with 17q12 Chromosomal Duplication
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10375410" target="_blank" >RIV/00216208:11130/18:10375410 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/18:10375410
Result on the web
<a href="https://doi.org/10.1111/ahg.12221" target="_blank" >https://doi.org/10.1111/ahg.12221</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/ahg.12221" target="_blank" >10.1111/ahg.12221</a>
Alternative languages
Result language
angličtina
Original language name
Choledochal Cyst with 17q12 Chromosomal Duplication
Original language description
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 cholestatic jaundice at the age of 2 weeks due to a choledochal cyst sized 15 x12 mm (type Ia according to the Todani classification). He underwent a shunt surgery consisting of a hepaticojejunostomy using Roux-en-Y loop at the age of 2 months, which led to a permanent relief of cholestasis. Perioperative liver histology revealed significant hepatic fibrosis and bile ductular proliferation. At 17 years, he has a mildly enlarged liver with decreased elasticity, an upper-normal-sized spleen, normal biochemistry values, and no renal or hepatic cysts. We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30209 - Paediatrics
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Annals of Human Genetics
ISSN
0003-4800
e-ISSN
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Volume of the periodical
82
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
4
Pages from-to
48-51
UT code for WoS article
000418388800005
EID of the result in the Scopus database
2-s2.0-85030155738