title: Different Cardiac Anomalies in Mother and Son with 4q-Syndrome.
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.
authors.affiliation: Cardiology Department, Ospedali Riuniti Villa Sofia Cervello, 90100 Palermo, Italy.
authors.forename: Marcello
authors.initials: M
authors.lastname: Marcì
authors.affiliation: Pediatric Clinic, Policlinico Universitario, Palermo, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Guarina
authors.affiliation: Pediatric Clinic, Policlinico Universitario, Palermo, Italy.
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Castiglione
authors.affiliation: Cardiology Department, Ospedali Riuniti Villa Sofia Cervello, 90100 Palermo, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Sanfilippo