Article
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.
American journal of medical genetics. Part A - 1 Oct 2012
Trkova Marie, Becvarova Vera, Hynek Martin, Hnykova Lenka, Hlavova Eva, Kreckova Gabriela, Kulovany Eduard, Cutka David, Zatloukalova Jitka, Markova Kristyna, Sukova Martina, Horacek Jiri, Stejskal David
Abstract excerpt
Jacobsen syndrome (JBS) is a rare chromosomal disorder caused by terminal deletion of the long arm of chromosome 11. We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying sizes. Precise characterization of the deleted region in three patients was performed by SNP arrays. The severity of both the prenatal and postnatal phenotypes did...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.