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2014 | 4 | 4 | 28-35

Article title

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

Content

Title variants

Languages of publication

EN

Abstracts

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.

Publisher

Year

Volume

4

Issue

4

Pages

28-35

Physical description

Dates

published
1 - 12 - 2014
accepted
26 - 11 - 2014
received
28 - 10 - 2014
online
30 - 12 - 2015

Contributors

author
  • Student of Medical University of Lodz
  • Department of Fetal Cardiology Research Hospital Polish Mother’s Memorial Hospital
  • Department of Diagnoses and Prevention of Fetal Malformations Medical University of Łódź

References

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Document Type

Publication order reference

Identifiers

YADDA identifier

bwmeta1.element.-psjd-doi-10_12847_12144
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