Genetic testing in children with autism spectrum disorders

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dc.authoridMunir, Kerim/0000-0002-2404-1806;
dc.contributor.authorCop, Esra
dc.contributor.authorYurtbasi, Pinar
dc.contributor.authorOner, Ozgur
dc.contributor.authorMunir, Kerim M.
dc.date.accessioned2025-10-24T18:10:09Z
dc.date.available2025-10-24T18:10:09Z
dc.date.issued2015
dc.departmentMalatya Turgut Özal Üniversitesi
dc.description.abstractObjective: The aim of this study was to investigate karyotype abnormalities, MECP2 mutations, and Fragile X in a clinical population of children with Autism Spectrum Disorders (ASD) using The Clinical Report published by the American Academy of Pediatrics. Methods: Ninety-six children with ASD were evaluated for genetic testing and factors associated with this testing. Results: Abnormalities were found on karyotype in 9.7% and in DNA for fragile X in 1.4%. Karyotype abnormalities include inv(9)(p12q13); inv(9)(p11q13); inv(Y)(p11q11); Robertsonian translocation (13; 14)(8q10q10) and (13,14)(q10q10); 9qh+; Yqh+; 15ps+; deletion 13(p11.2). Conclusion: Genetic testing should be offered to all families of a child with an ASD, even not all of them would follow this recommendation. Although karyotype and FRAXA assessment will yield almost 10% positive results, a detailed history and physical examination are still the most important aspect of the etiological evaluation for children with ASD. Also, it is important to have geneticists to help in interpreting the information obtained from genetic testing.
dc.description.sponsorshipFIC NIH HHS [D43 TW009680] Funding Source: Medline
dc.identifier.doi10.5455/apd.1414607917
dc.identifier.endpage432
dc.identifier.issn1302-6631
dc.identifier.issue6
dc.identifier.pmid26345476
dc.identifier.scopus2-s2.0-84936854553
dc.identifier.scopusqualityQ3
dc.identifier.startpage426
dc.identifier.urihttps://doi.org/10.5455/apd.1414607917
dc.identifier.urihttps://hdl.handle.net/20.500.12899/4006
dc.identifier.volume16
dc.identifier.wosWOS:000358667900007
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherCumhuriyet Univ Tip Fak Psikiyatri Anabilim Dali
dc.relation.ispartofAnadolu Psikiyatri Dergisi-Anatolian Journal Of Psychiatry
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20251023
dc.subjectautism; genetics; child
dc.titleGenetic testing in children with autism spectrum disorders
dc.title.alternativeOtizm spektrum bozukluğu olan çocuklarda genetik inceleme
dc.typeArticle

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