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.
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Authors | Darren L Harris, Benjamin L Siu, Marybeth Hummel, Kerry Harbert, Jamie Senft, Linda Sargent, Sharon L Wenger |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 131
Issue 1
Pg. 91-3
(Nov 15 2004)
ISSN: 1552-4825 [Print] United States |
PMID | 15389698
(Publication Type: Case Reports, Journal Article)
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Copyright | (c) 2004 Wiley-Liss, Inc. |
Topics |
- Chromosome Banding
- Chromosomes, Human, Pair 12
(genetics)
- Heart Defects, Congenital
(genetics, pathology)
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Karyotyping
- Male
- Mosaicism
- Pulmonary Veins
(abnormalities)
- Ring Chromosomes
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