Choledochal Cyst with 17q12 Chromosomal Duplication.
Ann Hum Genet
; 82(1): 48-51, 2018 Jan.
Article
em En
| MEDLINE
| ID: mdl-28940454
ABSTRACT
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 ×12 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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cisto do Colédoco
/
Dosagem de Genes
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Fator 1-beta Nuclear de Hepatócito
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Duplicação Cromossômica
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Male
/
Newborn
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article