Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 131A, Issue 1, Pages 91-93Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.30315
Keywords
chromosome 12p; total anomalous pulmonary venous return (TAPVR); ring 12p; fluorescent in situ hybridization (FISH); spectral karyotyping
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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. (C) 2004 Wiley-Liss, Inc.
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