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Partial proximal 10q trisomy: a new case associated with biliary atresia
Philippe A Lysy1, Catherine Sibille, Yves Gillerot
1Gastroenterology and Hepatology Unit, HPED Department, Université Catholique de Louvain & Cliniques Saint Luc, Brussels, Belgium.
Hereditas
|November 23, 2007
Summary
This study details a rare case of partial proximal 10q trisomy, highlighting its association with biliary atresia, anal malformation, and heart defects. The findings underscore the variable presentation of visceral malformations in this genetic syndrome.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- Partial proximal 10q trisomy is a rare chromosomal abnormality.
- Understanding the phenotypic spectrum of trisomy 10q is crucial for diagnosis and management.
- Visceral malformations can occur in chromosomal disorders, but their variability presents diagnostic challenges.
Observation:
- A unique case of partial proximal 10q trisomy is presented.
- The patient exhibited biliary atresia, anal anteposition, and cardiac malformation.
- Characteristic dysmorphic features of the partial proximal trisomy 10q syndrome were noted.
Findings:
- 10q duplication was confirmed using G banding on prophase chromosomes.
- Literature review confirmed the patient's features align with the defined partial proximal trisomy 10q syndrome.
- Significant interindividual variability in visceral malformations associated with this syndrome was emphasized.
Implications:
- This case expands the known phenotypic variability of partial proximal 10q trisomy.
- Highlights the importance of thorough evaluation for visceral anomalies in affected individuals.
- Contributes to a better understanding of genotype-phenotype correlations in chromosomal disorders.
