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Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report

dc.creatorOrru S., Papoulidis I., Siomou E., Papadimitriou D.T., Sotiriou S., Nikolaidis P., Eleftheriades M., Papanikolaou E., Thomaidis L., Manolakos E.en
dc.date.accessioned2023-01-31T09:41:10Z
dc.date.available2023-01-31T09:41:10Z
dc.date.issued2019
dc.identifier10.3892/br.2019.1210
dc.identifier.issn20499434
dc.identifier.urihttp://hdl.handle.net/11615/77401
dc.description.abstractIn this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, anxiety and depression were observed clinical characteristics. Mentioned copy number variants were the shortest in length reported so far. The current study hypothesized that the presence of a susceptibility locus for autism spectrum disorder associated with depression and anxiety may be located in a 200 kb region between the PCNT and PRMT2 genes. The current study aimed to provide insight into the human genome morbidity map of chromosome 21. © 2019, Spandidos Publications. All rights reserved.en
dc.language.isoenen
dc.sourceBiomedical Reportsen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85070336463&doi=10.3892%2fbr.2019.1210&partnerID=40&md5=f12a8bce97ec9fc7fac574472b80ba3d
dc.subjectcorticotropinen
dc.subjectfollitropinen
dc.subjectgrowth hormoneen
dc.subjectluteinizing hormoneen
dc.subjectoligonucleotideen
dc.subjectpericentrinen
dc.subjectphytohemagglutininen
dc.subjectprmt2 proteinen
dc.subjectprolactinen
dc.subjectproteinen
dc.subjectthymidineen
dc.subjectunclassified drugen
dc.subjectaneuploidyen
dc.subjectanxiety disorderen
dc.subjectArticleen
dc.subjectautismen
dc.subjectbirth weighten
dc.subjectbody heighten
dc.subjectbody weighten
dc.subjectbone ageen
dc.subjectcase reporten
dc.subjectcesarean sectionen
dc.subjectchilden
dc.subjectchromosome 21en
dc.subjectchromosome 21qen
dc.subjectchromosome 21q22.3en
dc.subjectchromosome analysisen
dc.subjectclinical articleen
dc.subjectclinical assessmenten
dc.subjectclinical evaluationen
dc.subjectclinical featureen
dc.subjectclinodactylyen
dc.subjectcomparative genomic hybridizationen
dc.subjectcopy number variationen
dc.subjectdepressionen
dc.subjectdisease associationen
dc.subjectdisease severityen
dc.subjectDSM-5en
dc.subjectechographyen
dc.subjectelectroencephalogramen
dc.subjectface dysmorphiaen
dc.subjectfrontal bossingen
dc.subjectgene deletionen
dc.subjectgene duplicationen
dc.subjectgene locusen
dc.subjectgenetic counselingen
dc.subjectgenetic susceptibilityen
dc.subjecthead circumferenceen
dc.subjecthepatographyen
dc.subjecthumanen
dc.subjecthuman genomeen
dc.subjectintelligenceen
dc.subjectkaryotypingen
dc.subjectlaboratory testen
dc.subjectlearning disorderen
dc.subjectlong philtrumen
dc.subjectmaleen
dc.subjectmedical historyen
dc.subjectmetaphase chromosomeen
dc.subjectmicrocephalyen
dc.subjectmorbidityen
dc.subjectmuscle hypotoniaen
dc.subjectneurologic examinationen
dc.subjectnippleen
dc.subjectnuclear magnetic resonance imagingen
dc.subjectpeer groupen
dc.subjectperipheral lymphocyteen
dc.subjectpharmaceutical careen
dc.subjectphenotypic variationen
dc.subjectproblem behavioren
dc.subjectpsychotherapyen
dc.subjectrenographyen
dc.subjectschool childen
dc.subjectshort statureen
dc.subjectskillen
dc.subjectsocial interactionen
dc.subjectthyroid glanden
dc.subjecttime to treatmenten
dc.subjectWechsler intelligence scale for childrenen
dc.subjectSpandidos Publicationsen
dc.titleAutism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case reporten
dc.typejournalArticleen


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