Reliability and Efficiency of Interphase-Fish With Alpha-satellite Probe for Detection of Aneuploidy

Basit Öğe Kaydı
dc.contributor.authorAcar, H.
dc.contributor.authorYıldırım, M. S.
dc.contributor.authorKaynak, M.
dc.date.accessioned2020-03-26T16:39:32Z
dc.date.available2020-03-26T16:39:32Z
dc.date.issued2002
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractReliability and efficiency of interphase-FISH with a-satellite probe for detection of aneuploidy: Early diagnosis is very important in pre- and postnatal diagnosis of Down syndrome. This study examines the use of fluorescence in situ hybridization (FISH) to detect trisomy 21 in interphase nuclei and metaphase chromosome obtained from fifty-four Down syndrome patients with a regular type trisomy 21. Three of them showed six hybridization signals on both interphase nuclei and metaphase spreads instead of five signals corresponding to two chromosomes 13 and three chromosomes 21 although they were cytogenctically trisomy 21. Simultaneous application of probe combination revealed that one of the extra signals of chromosomes 13/21 a-satellite probe was located on chromosome 22 in two cases and one extra signal on chromosomes 15 in one case, In addition, another case showed four hybridization signals on both interphase nuclei and metaphase spreads instead of five signals, indicating deletion of the chromosome specific a-satellite DNA sequence of chromosome 13/21. These centromeric sequence changes may have pathological significance in the appearance of aneuploidy because they may be involved in the important centromere function.en_US
dc.identifier.citationAcar, H., Yıldırım, M. S., Kaynak, M., (2002). Reliability and Efficiency of Interphase-Fish With Alpha-Satellite Probe for Detection of Aneuploidy. Genetic Counseling, 13(1), 11-17.
dc.identifier.endpage17en_US
dc.identifier.issn1015-8146en_US
dc.identifier.issue1en_US
dc.identifier.pmid12017232en_US
dc.identifier.startpage11en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/18027
dc.identifier.volume13en_US
dc.identifier.wosWOS:000174984600002en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorAcar, H.
dc.institutionauthorYıldırım, M. S.
dc.institutionauthorKaynak, M.
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.selcuk20240510_oaigen_US
dc.subjecttrisomy 21en_US
dc.subjectDown syndromeen_US
dc.subjectFISHen_US
dc.titleReliability and Efficiency of Interphase-Fish With Alpha-satellite Probe for Detection of Aneuploidyen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Tıbbi Biyoloji/makale koleksiyonu
Tıbbi Genetik/Makale Koleksiyonu