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  1. 1 Prenatal Cardiology

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  1. 1 2014

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  1. 1 Respondek-Liberska M.

  2. 1 Wildner P.

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

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Wildner P., Respondek-Liberska M.
Prenatal Cardiology
|
2014
|
vol. 4
|
issue 4
28-35
EN
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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