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Mosaic ring 12p and total anomalous pulmonary venous return.

Authors
Harris DL; Siu BL; Hummel M; Harbert K; Senft J; Sargent L; Wenger SL
Source
Am J Med Genet A 2004 Nov; 131A(1):91-93
NIOSHTIC No.
20025951
Abstract
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.
Keywords
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
Contact
Darren L. Harris, West Virginia University School of Medicine, Department of Pathology, Health Sciences Center, PO Box 9203, Morgantown, WV 26506
CODEN
AJMGDA
Publication Date
20041115
Document Type
Journal Article
Email Address
dlharris@hsc.wvu.edu
Fiscal Year
2005
Issue of Publication
1
ISSN
1552-4825
NIOSH Division
HELD
Priority Area
Research Tools and Approaches: Cancer Research Methods
Source Name
American Journal of Medical Genetics Part A
State
WV
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