title: Mosaic ring 12p and total anomalous pulmonary venous return.
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.
authors.affiliation: Department of Pathology, West Virginia University School of Medicine, Morgantown, West Virginia, USA. dlharris@hsc.wvu.edu
authors.forename: Darren L
authors.initials: DL
authors.lastname: Harris
authors.forename: Benjamin L
authors.initials: BL
authors.lastname: Siu
authors.forename: Marybeth
authors.initials: M
authors.lastname: Hummel
authors.forename: Kerry
authors.initials: K
authors.lastname: Harbert
authors.forename: Jamie
authors.initials: J
authors.lastname: Senft
authors.forename: Linda
authors.initials: L
authors.lastname: Sargent
authors.forename: Sharon L
authors.initials: SL
authors.lastname: Wenger
mesh_terms: 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