Open AccessJacobsenov sindrom
Author(s) -
Milena Treiber,
Tanja Dukić Vuković,
Veronika Kropivšek
Publication year - 2015
Publication title -
zdravniški vestnik
Language(s) - English
Resource type - Journals
eISSN - 1581-0224
pISSN - 1318-0347
DOI - 10.6016/zdravvestn.1277
Subject(s) - long arm , medicine , chromosome , heart disease , gene , pediatrics , genetics , biology
Jacobsen syndrome is a gene syndrome caused by partial deletion of the long arm of chromosome 11.About 20% of children die during the first two years of life, most commonly realated to complications from congenital heart disease, less commonly from bleeding.The authors present a male newborn that inhereted unbalanced deletion from a carrier mother.