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 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.
Harris
Darren L
DL
Department of Pathology, West Virginia University School of Medicine, Morgantown, West Virginia, USA. dlharris@hsc.wvu.edu
Siu
Benjamin L
BL
Hummel
Marybeth
M
Harbert
Kerry
K
Senft
Jamie
J
Sargent
Linda
L
Wenger
Sharon L
SL
D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011667:Pulmonary Veins / Q000002:abnormalities*; D012303:Ring Chromosomes