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Alagille-like syndrome with surprising karyotype: a case report
S Amimoto1, M Ishii2, K Tanaka3
1Department of Obstetrics and Gynecology, University of Occupational and Environmental Health, Kitakyushu, Japan.
Journal of Medical Case Reports
|April 26, 2023
Summary
A preterm infant with a rare chromosomal abnormality was diagnosed with incomplete Alagille syndrome. This case suggests that genetic mutations beyond JAG1 and NOTCH2 may cause Alagille syndrome.
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- Alagille syndrome is a multisystem disorder characterized by liver dysfunction, cardiac, skeletal, and ophthalmologic abnormalities.
- It is typically caused by mutations in JAG1 or NOTCH2 genes.
- Liver dysfunction is not a common symptom of chromosome 5p partial monosomy or 6p partial trisomy.
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