JACOBSEN SYDNROME – CASE REPORT
Abstract
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.
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Literatura
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OMIM KIRREL#
UGUERIN, Andrea, et al. Interstitial deletion of 11q‐implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. American Journal of Medical Genetics Part A, 2012, 158.10: 2551-2556.
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