Marcì Marcello, Guarina Angela, Castiglione M Cristina, Sanfilippo Nicola
Cardiology Department, Ospedali Riuniti Villa Sofia Cervello, 90100 Palermo, Italy.
Pediatric Clinic, Policlinico Universitario, Palermo, Italy.
Case Rep Genet. 2015;2015:932651. doi: 10.1155/2015/932651. Epub 2015 Aug 31.
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.
我们报告了一名患有无症状左心三房心且伴有4q34.3缺失的女性患者。她的孩子携带相同的染色体失衡，患有法洛四联症。据我们所知，这是首例报道的与4号染色体长臂缺失相关的左心三房心病例；此外，大多数4号染色体长臂综合征患者存在从头缺失，迄今为止仅报道了少数家族性病例。
