About: A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

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About: A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1002/ajmg.a.35783
Description	The 2p15-p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11-year-old female showing clinical features consistent with the syndrome and carrying a de novo 0.45Mb long deletion of the paternally derived 2p16.1 allele. The deleted region contains only three protein-coding RefSeq genes, BCL11A, PAPOLG, and REL, and one long non-coding RNA gene FLJ16341. Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, we propose that the critical region can be narrowed down further, and that these brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome. (c) 2013 Wiley Periodicals, Inc. The 2p15-p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11-year-old female showing clinical features consistent with the syndrome and carrying a de novo 0.45Mb long deletion of the paternally derived 2p16.1 allele. The deleted region contains only three protein-coding RefSeq genes, BCL11A, PAPOLG, and REL, and one long non-coding RNA gene FLJ16341. Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, we propose that the critical region can be narrowed down further, and that these brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome. (c) 2013 Wiley Periodicals, Inc. (en)
Title	A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome (en)
skos:prefLabel	A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome (en)
skos:notation	RIV/00064203:_____/13:10193078!RIV14-MZ0-00064203
http://linked.open...avai/predkladatel	Fakultní nemocnice v Motole
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(LD11028)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Simandlová, Martina Drábová, Jana
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	58928
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/13:10193078
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	SNP array; intellectual disability; developmental delay; copy number variation; autism; 1 microdeletion syndrome; 2p15-p16 (en)
http://linked.open.../riv/klicoveSlovo	1 microdeletion syndrome 2p15-p16 SNP array developmental delay autism copy number variation intellectual disability
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[780ED39C45F3]
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	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	New approaches to early diagnostics of autism
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	161A
http://linked.open...iv/tvurceVysledku	Sedláček, Zdeněk Drábová, Jana Hančárová, Miroslava Kurg, Ants Mannik, Katrin Simandlová, Martina
http://linked.open...ain/vavai/riv/wos	000316631300035
issn	1552-4825
number of pages	6 (xsd:int)
http://bibframe.org/vocab/doi	10.1002/ajmg.a.35783

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