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Mosaic ring 12p and total anomalous pulmonary venous return.
Harris DL; Siu BL; Hummel M; Harbert K; Senft J; Sargent L; Wenger SL
Am J Med Genet A 2004 Nov; 131A(1):91-93
An infant born with total anomalous pulmonary venous return (TAPVR) was found to have an extra chromosome present as a small ring. Spectral karyotyping and FISH analysis identified the material as a duplication involving the short arm of chromosome 12. Previous cases describing a variety of cytogenetic abnormalities that have been associated with TAPVR are reviewed along with prior cases of duplication 12p with their associated findings. We believe ours is the first case to report the occurrence of mosaic ring 12p and its association with TAPVR.
Pulmonary-system-disorders; Respiratory-system-disorders; Heart; Genetic-disorders; Genetics; Genes; Chromosome-damage; Chromosome-disorders; Author Keywords: chromosome 12p; total anomalous pulmonary venous return (TAPVR); ring 12p; fluorescent in situ hybridization (FISH); spectral karyotyping
Darren L. Harris, West Virginia University School of Medicine, Department of Pathology, Health Sciences Center, PO Box 9203, Morgantown, WV 26506
Issue of Publication
Research Tools and Approaches: Cancer Research Methods
American Journal of Medical Genetics Part A
Page last reviewed: November 6, 2020
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