雅各布森综合征-产前和产后表型改变-病例报告和回顾

Prenatal Cardiology Pub Date : 2014-12-01 DOI:10.12847/12144

P. Wildner, M. Respondek-Liberska

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引用次数: 0

摘要

11缺失综合征，即雅各布森综合征(Jacobsen syndrome, JBS)，是一种与多种表型相关的罕见遗传异常。产前诊断为JBS的病例报告很少，但大多数导致终止妊娠。我们首次提出了JBS合并先天性心脏缺陷共同动脉干I型(CAT)的产前诊断以及胎儿和出生后生活中表型的变化。

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Jacobsen Syndrome - Prenatal and Postnatal Phenotypic Changes - Case Report and Review

Abstract 11 deletion syndrome, Jacobsen syndrome (JBS), is a rare genetic abnormality associated with a wide variety of phenotypes. There are only a few case reports of JBS diagnosed prenatally, however majority resulting in termination of pregnancy. We present for the first time a prenatal diagnosis of JBS with congenital heart defect common arterial trunk type I (CAT) and the changing phenotype during fetal and postnatal life.

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Prenatal Cardiology

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