A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder.
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.
Clarke
James R
JR
Department of Radiology, Dalhousie University, Halifax, Nova Scotia, Canada.
Schmidt
Matthias H
MH
Macken
Marian B
MB
Morley
Charlotte
C
Cummings
Elizabeth A
EA
D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis*; D004062:DiGeorge Syndrome / Q000175:diagnosis*; D005260:Female; D005704:Gallbladder / Q000002:abnormalities*; D006801:Humans