A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder
| Autor: | Charlotte Morley, Elizabeth A. Cummings, Matthias H. Schmidt, Marian B. Macken, James R. Clarke |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Pathology
medicine.medical_specialty Population Chromosome Disorders medicine.disease_cause medicine DiGeorge Syndrome Humans Radiology Nuclear Medicine and imaging education Child Neuroradiology Mutation Magnetic resonance cholangiopancreatography education.field_of_study medicine.diagnostic_test business.industry Gallbladder Bilobed gallbladder Chromosome Anatomy medicine.anatomical_structure Biliary tract Pediatrics Perinatology and Child Health Female Chromosome Deletion business |
| Zdroj: | Pediatric radiology. 37(2) |
| ISSN: | 0301-0449 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink