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dc.contributor.authorSayar, Ceyhan
dc.contributor.authorYardımcı, Tülay
dc.contributor.authorTarhan, Nazan
dc.contributor.authorToksoy, Güven
dc.contributor.authorCesur, Suna
dc.contributor.authorUludoğan, Mehmet
dc.contributor.authorTürköver, Bilge
dc.contributor.authorSöylemez, Mehmet Ali
dc.date.accessioned2023-02-21T10:36:32Z
dc.date.available2023-02-21T10:36:32Z
dc.date.issued2007
dc.identifier.citationToksoy G., Türköver B., Sayar C., Söylemez M. A., Yardımcı T., Tarhan N., Cesur S., Uludoğan M., "Unusual prenatal case with multiple marker chromosomes", CHROMOSOME RESEARCH, cilt.15, sa.1, ss.127, 2007
dc.identifier.issn0967-3849
dc.identifier.othervv_1032021
dc.identifier.otherav_47b5af0a-cc00-4829-b73f-df63eea683ad
dc.identifier.urihttp://hdl.handle.net/20.500.12627/188545
dc.identifier.urihttps://link.springer.com/article/10.1007/s10577-007-1911-x
dc.identifier.urihttps://doi.org/10.1007/s10577-007-1911-x
dc.description.abstractHere we report a prenatal case with clonally present different marker chromosomes with GTG banding in multiple cell lines cultured from amniotic cells obtained at 18 weeks of gestation. The amniocentesis was performed because of an increased risk for Down syndrome based on a first trimester screening test but without ultrasonographically detected features. Fetal karyotype was 47õ50,XX,+mar1, +mar2,+mar3[cp50]. CBG and NOR banding showed that all markers had one centromere and no satellites. One of the markers had an unstained region on both arms with CBG banding. Both parents were found to have normal karyotypes. FISH analysis by multiprobe (cytocell) revealed marker chromosomes derived from chromosome 3, 7, and 8. The pregnancy was terminated after genetic counselling. The Fetus presented a small ventricular septal defect, cliteromegaly, and pulmonary segmental defects on autopsy examination following termination at 22 weeks of gestational age. Cytogenetic analysis of skin fibroblasts confirmed these results.
dc.language.isoeng
dc.subjectGenetik
dc.subjectKlinik Tıp (MED)
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectKlinik Tıp
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTIP, GENEL & DAHİLİ
dc.subjectGENETİK VE KALITIM
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectSağlık Bilimleri
dc.subjectGenel Sağlık Meslekleri
dc.subjectPatofizyoloji
dc.subjectTemel Bilgi ve Beceriler
dc.subjectDeğerlendirme ve Teşhis
dc.subjectDahiliye
dc.subjectGenetik (klinik)
dc.subjectAile Sağlığı
dc.subjectTıp (çeşitli)
dc.subjectGenel Tıp
dc.subjectYaşam Bilimleri
dc.titleUnusual prenatal case with multiple marker chromosomes
dc.typeMakale
dc.relation.journalCHROMOSOME RESEARCH
dc.contributor.departmentİstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume15
dc.identifier.issue1
dc.identifier.startpage127
dc.identifier.endpage127
dc.contributor.firstauthorID4228303


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