About: SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome

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About: SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1002/ajmg.a.35537
Description	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 not correlate with the size of the haploinsufficient region. Despite the large difference in the deletion size (nearly 6 Mb), both of the live-born patients had similar phenotypes corresponding to JBS. However, one of the most prominent features of JBS, thrombocytopenia, was only present in the live-born boy. The girl, who had a significantly longer deletion spanning all four genes suspected of being causative of JBS-related thrombocytopenia (FLI1, ETS1, NFRKB, and JAM3), did not manifest a platelet phenotype. Therefore, our findings do not support the traditional view of deletion size correlation in JBS or the causative role of FLI1, ETS1, NFRKB, and JAM3 deletion per se for the development of disease-related thrombocytopenia. 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 not correlate with the size of the haploinsufficient region. Despite the large difference in the deletion size (nearly 6 Mb), both of the live-born patients had similar phenotypes corresponding to JBS. However, one of the most prominent features of JBS, thrombocytopenia, was only present in the live-born boy. The girl, who had a significantly longer deletion spanning all four genes suspected of being causative of JBS-related thrombocytopenia (FLI1, ETS1, NFRKB, and JAM3), did not manifest a platelet phenotype. Therefore, our findings do not support the traditional view of deletion size correlation in JBS or the causative role of FLI1, ETS1, NFRKB, and JAM3 deletion per se for the development of disease-related thrombocytopenia. (en)
Title	SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome (en)
skos:prefLabel	SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome (en)
skos:notation	RIV/00064203:_____/12:8114!RIV13-MZ0-00064203
http://linked.open...avai/riv/aktivita	I
http://linked.open...avai/riv/aktivity	I
http://linked.open...iv/cisloPeriodika	10
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Suková, Martina
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	168744
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/12:8114
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Jacobsen syndrome; 11q terminal deletion; thrombocytopenia; FLI1 gene; partial monosomy 11q; prenatal-diagnosis; terminal deletion; distal 11q; molecular characterization; fetal bowel; expression; marker; child (en)
http://linked.open.../riv/klicoveSlovo	molecular characterization prenatal-diagnosis expression marker 11q terminal deletion FLI1 gene Jacobsen syndrome distal 11q fetal bowel partial monosomy 11q terminal deletion child - threat - divorce - domestic violence - abandonment - adoption thrombocytopenia
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[EDC123DE3F8C]
http://linked.open...i/riv/nazevZdroje	American Journal of Medical Genetics. Part A
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	13 (xsd:int)
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	158A
http://linked.open...iv/tvurceVysledku	Suková, Martina Hynek, M. Stejskal, D. Trkova, M. Becvarova, V. Cutka, D. Hlavova, E. Hnykova, L. Horacek, J. Kreckova, G. Kulovany, E. Markova, K. Zatloukalova, J.
http://linked.open...ain/vavai/riv/wos	000310070700027
issn	1552-4825
number of pages	6 (xsd:int)

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