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Mosaic ring 12p and total anomalous pulmonary venous return
Author(s) -
Harris Darren L.,
Siu Benjamin L.,
Hummel Marybeth,
Harbert Kerry,
Senft Jamie,
Sargent Linda,
Wenger Sharon L.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30315
Subject(s) - karyotype , gene duplication , ring chromosome , biology , fish <actinopterygii> , chromosome , genetics , fishery , gene
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.