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首页> 外文期刊>American journal of medical genetics, Part A >Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.
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Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.

机译：与家族性Wolff-Parkinson-White综合征相关的20p12.3重复。

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摘要

Wolff-Parkinson-White (WPW) syndrome is caused by preexcitation of the ventricular myocardium via an accessory pathway which increases the risk for paroxysmal supraventricular tachycardia. The condition is often sporadic and of unknown etiology in the majority of cases. Autosomal dominant inheritance and association with congenital heart defects or ventricular hypertrophy were described. Microdeletions of 20p12.3 have been associated with WPW syndrome with either cognitive dysfunction or Alagille syndrome. Here, we describe the association of 20p12.3 duplication with WPW syndrome in a patient who presented with non-immune hydrops. Her paternal uncle carries the duplication and has attention-deficit hyperactivity disorder and electrocardiographic findings consistent with WPW. The 769?kb duplication was detected by the Affymetrix Whole Genome-Human SNP Array 6.0 and encompasses two genes and the first two exons of a third gene. We discuss the potential role of the genes in the duplicated region in the pathogenesis of WPW and possible neurobehavioral abnormalities. Our data provide additional support for a significant role of 20p12.3 chromosomal rearrangements in the etiology of WPW syndrome.
机译：沃尔夫-帕金森-怀特（WPW）综合征是由心室心肌通过辅助途径引起的预激引起的，这增加了阵发性室上性心动过速的风险。在大多数情况下，这种病通常是零星的，病因不明。描述了常染色体显性遗传和与先天性心脏缺陷或心室肥大的关联。 20p12.3的微缺失已与具有认知功能障碍或Alagille综合征的WPW综合征相关。在这里，我们描述了20p12.3复制与WPW综合征在非免疫性水肿患者中的关联。她的父亲叔叔背负着重复，并患有注意力缺陷多动障碍和符合WPW的心电图表现。 Affymetrix全基因组-人类SNP Array 6.0检测到769kb重复，包含两个基因和第三个基因的前两个外显子。我们讨论了WPW发病机理和可能的神经行为异常中重复区域中基因的潜在作用。我们的数据为20p12.3染色体重排在WPW综合征病因中的重要作用提供了额外的支持。

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