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Duplication 4q associated with chronic cholestatic changes in liver biopsy
Odul Egritas1, Busranur Cavdarli, Buket Dalgic
1Gazi University Faculty of Medicine, Department of Pediatric Gastroenterology, Ankara, Turkey. odulmd2003@yahoo.com
European Journal of Medical Genetics
|September 10, 2010
Summary
This study details a rare case of partial trisomy 4q syndrome in a newborn presenting with neonatal cholestasis. This genetic condition, characterized by specific physical features, highlights a novel association with liver issues in infants.
Area of Science:
- Genetics
- Pediatrics
- Neonatology
Background:
- Partial trisomy 4q syndrome is a rare chromosomal abnormality.
- Neonatal cholestasis is a serious condition requiring prompt diagnosis.
- Genetic factors can influence neonatal liver function.
Observation:
- A 15-day-old female infant presented with neonatal cholestasis.
- The infant exhibited dysmorphic facial features, preaxial polysyndactyly, hypertrichosis, pes equinovarus, pedal edema, and mild hepatomegaly.
- Elevated liver enzymes and direct hyperbilirubinemia were noted without a clear cause.
Findings:
- Cytogenetic analysis revealed a karyotype of 46,XX,der(13)t(4;13)(q25;p13).
- This chromosomal rearrangement resulted in partial trisomy 4q.
- The patient represents the first reported case of partial trisomy 4q syndrome associated with neonatal cholestasis.
Implications:
- This case expands the clinical spectrum of partial trisomy 4q syndrome.
- It suggests a potential link between this genetic disorder and neonatal cholestasis.
- Further research is warranted to understand the underlying mechanisms and improve diagnostic approaches.
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