Chromosomal rearrangements in children with idiopathic mental retardation using subtelomeric fluorescent in situ hybridization

Basit Öğe Kaydı
dc.contributor.authorCogulu, O.
dc.contributor.authorGunduz, C.
dc.contributor.authorKaraca, E.
dc.contributor.authorOnay, H.
dc.contributor.authorÖzkınay, C.
dc.contributor.authorÖzkınay, Ferda
dc.date.accessioned2019-10-27T19:20:37Z
dc.date.available2019-10-27T19:20:37Z
dc.date.issued2006
dc.departmentEge Üniversitesien_US
dc.description.abstractTo screen a selected group of children with idiopathic mental retardation for subtelomeric abnormalities using the fluorescent in situ hybridization (FISH), which has been reported to be cost-effective in routine applications. We also aimed to assess the availability of the scoring system which is used for selection of those children for FISH analysis. A total of 30 children aged 3-16 years with idiopathic mental retardation (moderate to severe) and normal karyotypes were included in this study. The children whose parents had consanguineous marriages were excluded from the study. All cases were evaluated using the scoring system published by de Vries et al. (5) Forty-one subtelomeric regions for each case were analyzed by fluorescent in situ hybridization. One case with a score value 5 presented terminal deletion of chromosome 9p by FISH (3.3 %). Analyzing chromosomes of the same case with higher resolution G-banding showed the same abnormality. The frequency of subtelomeric abnormalities in our study group was much lower than the frequencies reported in other studies and the scoring criterions suggested by de Vries et al. have not effectively increased our subtelomeric deletion detection rates. Autosomal recessive disorders may be a more common reason compared to subtelomeric abnormalities in this group of patients in the countries where consanguinity rate is high. Laboratories may be encouraged to analyze high-resolution G-banded karyotypes in those cases. Moreover more effective selection criteria for FISH are suggested by establishing thorough genotype-phenotype correlations besides case reports with different subtelomeric abnormalities.en_US
dc.identifier.endpage331en_US
dc.identifier.issn1015-8146
dc.identifier.issue3en_US
dc.identifier.pmid17100201en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage321en_US
dc.identifier.urihttps://hdl.handle.net/11454/38894
dc.identifier.volume17en_US
dc.identifier.wosWOS:000241446600008en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMedecine Et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectchromosomesen_US
dc.subjectconsanguinityen_US
dc.subjectFISHen_US
dc.subjectkaryotypeen_US
dc.titleChromosomal rearrangements in children with idiopathic mental retardation using subtelomeric fluorescent in situ hybridizationen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu