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

Abstract

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.