Different Cardiac Anomalies in Mother and Son with 4q-Syndrome

We report a female patient with asymptomatic cor triatriatum sinister, associated with 4q34.3 deletion. Her child, carrying the same imbalance, suffers from tetralogy of Fallot. To the best of our knowledge, this is the first reported case of cor triatriatum associated with deletion of the long arm...

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Bibliographic Details
Main Authors: Marcello Marcì, Angela Guarina, M. Cristina Castiglione, Nicola Sanfilippo
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2015/932651
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Summary:We report a female patient with asymptomatic cor triatriatum sinister, associated with 4q34.3 deletion. Her child, carrying the same imbalance, suffers from tetralogy of Fallot. To the best of our knowledge, this is the first reported case of cor triatriatum associated with deletion of the long arm of the chromosome 4; furthermore, the majority of patients with chromosome 4 long arm syndrome have de novo deletions and only few familial cases have been reported so far.
ISSN:2090-6544
2090-6552