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

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

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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 here our knowledge, this is the first reported case of cor triatriatum associated with deletion of the long arm of the chromosome 4; furthermore, the satisfyer pro penguin next generation majority of patients with chromosome 4 long arm syndrome have de novo deletions and only few familial cases have been reported so far.