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Marcì M, Guarina A, Castiglione MC, et al. Different Cardiac Anomalies in Mother and Son with 4q-Syndrome. Case Rep Genet. 2015;2015:932651doi: 10.1155/2015/932651.
Marcì, M., Guarina, A., Castiglione, M. C., & Sanfilippo, N. (2015). Different Cardiac Anomalies in Mother and Son with 4q-Syndrome. Case reports in genetics, 2015932651. https://doi.org/10.1155/2015/932651
Marcì, Marcello, et al. "Different Cardiac Anomalies in Mother and Son with 4q-Syndrome." Case reports in genetics vol. 2015 (2015): 932651. doi: https://doi.org/10.1155/2015/932651
Marcì M, Guarina A, Castiglione MC, Sanfilippo N. Different Cardiac Anomalies in Mother and Son with 4q-Syndrome. Case Rep Genet. 2015;2015:932651. doi: 10.1155/2015/932651. Epub 2015 Aug 31. PMID: 26417463; PMCID: PMC4568327.
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Case Rep Genet. 2015;2015:932651. doi: 10.1155/2015/932651. Epub 2015 Aug 31.

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

Case reports in genetics

Marcello Marcì, Angela Guarina, M Cristina Castiglione, Nicola Sanfilippo

Affiliations

  1. Cardiology Department, Ospedali Riuniti Villa Sofia Cervello, 90100 Palermo, Italy.
  2. Pediatric Clinic, Policlinico Universitario, Palermo, Italy.

PMID: 26417463 PMCID: PMC4568327 DOI: 10.1155/2015/932651

Abstract

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.

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