Prenatal diagnosis of de novo reciprocal translocation t(1;12)(q21.3;p11.2) with trisomy 21 and sperm FISH analysis for increased aneuploidy risk

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dc.contributor.buuauthorKarkucak, Mutlu
dc.contributor.buuauthorSağ, Şebnem Özemri
dc.contributor.buuauthorYakut, Tahsin
dc.contributor.buuauthorKimya, Yalçın
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Kadın Hastalıkları ve Doğum Anabilim Dalı.tr_TR
dc.contributor.researcheridAAH-8355-2021tr_TR
dc.contributor.scopusid35388323500tr_TR
dc.contributor.scopusid36638231300tr_TR
dc.contributor.scopusid6602802424tr_TR
dc.contributor.scopusid6603919968tr_TR
dc.date.accessioned2022-03-14T08:19:45Z
dc.date.available2022-03-14T08:19:45Z
dc.date.issued2010-12
dc.description.abstractComplex rearrangements such as de novo translocations together with aneuploidy are unusual situations in prenatal diagnosis. We report a case with de novo translocation t(1;12)(q21.3;p11.2) and trisomy 21. Father's sperm was analyzed for potential of increased risk of aneuploidy. Results showed no paternal increased risk for chromosomes 13, 18, 21, X, Y. Based on our results, we suggest that possible increased maternal aneuploidy risk add other possible mechanisms should be investigated to better understand cell division errors and to give better genetic counseling.en_US
dc.identifier.citationKarkucak, M. vd. (2010). "Prenatal diagnosis of de novo reciprocal translocation t(1;12)(q21.3;p11.2) with trisomy 21 and sperm FISH analysis for increased aneuploidy risk". International Journal of Human Genetics, 10(4), 231-234.en_US
dc.identifier.endpage234tr_TR
dc.identifier.issn0972-3757
dc.identifier.issue4tr_TR
dc.identifier.scopus2-s2.0-79953273937tr_TR
dc.identifier.startpage231tr_TR
dc.identifier.urihttps://doi.org/10.1080/09723757.2010.11886110
dc.identifier.urihttps://www.tandfonline.com/doi/abs/10.1080/09723757.2010.11886110
dc.identifier.urihttp://hdl.handle.net/11452/24978
dc.identifier.volume10tr_TR
dc.identifier.wos000287340400004tr_TR
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherKamla-Raj Enterprisesen_US
dc.relation.journalInternational Journal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPrenatal diagnosisen_US
dc.subjectTranslocationen_US
dc.subjectAneuploidyen_US
dc.subjectSperm FISHen_US
dc.subjectGenetic counselingen_US
dc.subjectIn-sıtu hybridizationen_US
dc.subjectConstitutionalen_US
dc.subjectRearrangementsen_US
dc.subjectChromosomal-aberrationsen_US
dc.subjectFragile sitesen_US
dc.subjectCarriersen_US
dc.subjectBreakpointsen_US
dc.subjectAmniocentesisen_US
dc.subjectGenetics & heredityen_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeAneuploidyen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeChromosome 11pen_US
dc.subject.emtreeChromosome 13en_US
dc.subject.emtreeChromosome 18en_US
dc.subject.emtreeChromosome 21en_US
dc.subject.emtreeChromosome 21qen_US
dc.subject.emtreeChromosome G banden_US
dc.subject.emtreeChromosome polymorphismen_US
dc.subject.emtreeChromosome translocation 1en_US
dc.subject.emtreeChromosome translocation 12en_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeFluorescence in situ hybridizationen_US
dc.subject.emtreeGenetic associationen_US
dc.subject.emtreeGenetic risken_US
dc.subject.emtreeGenetic screeningen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeKaryometryen_US
dc.subject.emtreeKaryotype 47,XXXen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreePrenatal diagnosisen_US
dc.subject.emtreeReciprocal chromosome translocationen_US
dc.subject.emtreeRisk assessmenten_US
dc.subject.emtreeSemen analysisen_US
dc.subject.emtreeTrisomy 21en_US
dc.subject.emtreeX chromosomeen_US
dc.subject.emtreeY chromosomeen_US
dc.subject.scopusWolf-Hirschhorn Syndrome; Phenotype; EF Hand Motifen_US
dc.subject.wosGenetics & heredityen_US
dc.titlePrenatal diagnosis of de novo reciprocal translocation t(1;12)(q21.3;p11.2) with trisomy 21 and sperm FISH analysis for increased aneuploidy risken_US
dc.typeArticle
dc.wos.quartileQ4en_US

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