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Mosaic ring 12p and total anomalous pulmonary venous return
Darren L Harris1, Benjamin L Siu, Marybeth Hummel
1Department of Pathology, West Virginia University School of Medicine, Morgantown, West Virginia, USA. dlharris@hsc.wvu.edu
American Journal of Medical Genetics. Part A
|September 25, 2004
Summary
This study reports the first case of mosaic ring 12p, a rare chromosomal abnormality, associated with total anomalous pulmonary venous return (TAPVR), a congenital heart defect.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Total anomalous pulmonary venous return (TAPVR) is a critical congenital heart defect.
- Chromosomal abnormalities are known risk factors for congenital heart disease.
Observation:
- An infant presented with TAPVR and an unusual ring chromosome.
- Karyotyping and FISH analysis revealed a duplication of chromosome 12p material in a mosaic ring formation.
Findings:
- This is the first reported case of mosaic ring 12p associated with TAPVR.
- The study reviews existing literature on cytogenetic abnormalities and 12p duplication.
Implications:
- This finding may contribute to understanding the genetic basis of TAPVR.
- Further research is needed to explore the link between 12p duplications and congenital heart defects.