Mosaic ring 12p and total anomalous pulmonary venous return.
Am J Med Genet A
; 131(1): 91-3, 2004 Nov 15.
Article
em En
| MEDLINE
| ID: mdl-15389698
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Veias Pulmonares
/
Cromossomos em Anel
/
Cromossomos Humanos Par 12
/
Cardiopatias Congênitas
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Ano de publicação:
2004
Tipo de documento:
Article