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

MarcelloMarcì; AngelaGuarina; M. CristinaCastiglione; NicolaSanfilippo

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

机译：母亲和儿子患有4q综合征的不同心脏异常

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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 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.

机译：我们报告一名女性患者无症状的triatriatum险恶，与4q34.3删除相关。她的孩子患有同样的失衡症，患有法洛氏四联症。据我们所知，这是第一个报道的与三号染色体第4号长臂缺失有关的triatriatum病例。此外，大多数患有4号染色体长臂综合症的患者从头开始缺失，到目前为止，仅报道了少数家族性病例。

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《Case Reports in Genetics》 |2015年第2期|共3页
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MarcelloMarcì; AngelaGuarina; M. CristinaCastiglione; NicolaSanfilippo;
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Different Cardiac Anomalies in Mother and Son with 4q-Syndrome

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