Mosaic ring 12p and total anomalous pulmonary venous return

American Journal of Medical Genetics. Part a
Darren L HarrisSharon L Wenger

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.

Citations

Jun 20, 2014·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Isaac E LloydMouied Alashari
Jan 13, 2015·Journal of cardiovascular ultrasound·Ho-Sung KimYoung Kuk Cho
Oct 13, 2006·American Journal of Medical Genetics. Part a·Steven B BleylKenneth Ward
Nov 10, 2005·American Journal of Medical Genetics. Part a·Richard KellermayerGyörgy Kosztolányi

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