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01-02-2007 | Case Report

A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder

Authors: James R. Clarke, Matthias H. Schmidt, Marian B. Macken, Charlotte Morley, Elizabeth A. Cummings

Published in: Pediatric Radiology | Issue 2/2007

Abstract

We present an 11-year-old girl with a chromosome 22q11.2 microdeletion, velocardiofacial syndrome (VCFS), and a bilobed gallbladder as an incidental finding on abdominal sonography. The finding was confirmed by magnetic resonance cholangiopancreatography (MRCP).This is the first report of a gallbladder anomaly associated with a chromosome 22q11.2 deletion and the second report of a biliary tract anomaly associated with a mutation in the chromosome 22q11 region. We suggest that close attention be paid to the anatomy of the biliary tree in patients with mutations in the chromosome 22q11 region. Further study is warranted to determine the range and prevalence of biliary tract anomalies in this population.

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Title: A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder
Authors: James R. Clarke
Matthias H. Schmidt
Marian B. Macken
Charlotte Morley
Elizabeth A. Cummings
Publication date: 01-02-2007
Publisher: Springer-Verlag
Published in: Pediatric Radiology / Issue 2/2007
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-006-0357-1

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A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder

Abstract

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Abstract

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