Mosaic ring 12p and total anomalous pulmonary venous return

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 cytogene...

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Bibliographic Details
Published in:American journal of medical genetics 2004-11, Vol.131A (1), p.91-93
Main Authors: Harris, Darren L., Siu, Benjamin L., Hummel, Marybeth, Harbert, Kerry, Senft, Jamie, Sargent, Linda, Wenger, Sharon L.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cardiology. Vascular system
chromosome 12p
Chromosome Banding
Chromosomes, Human, Pair 12 - genetics
Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava
fluorescent in situ hybridization (FISH)
General aspects. Genetic counseling
Heart
Heart Defects, Congenital - genetics
Heart Defects, Congenital - pathology
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Male
Medical genetics
Medical sciences
Mosaicism
Pulmonary Veins - abnormalities
ring 12p
Ring Chromosomes
spectral karyotyping
total anomalous pulmonary venous return (TAPVR)
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Description
Summary: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. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.30315