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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.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentKadın Hastalıkları ve Doğum Ana Bilim Dalı
dc.contributor.departmentTıbbi Genetik Ana Bilim Dalı
dc.contributor.researcheridAAH-8355-2021
dc.contributor.scopusid35388323500
dc.contributor.scopusid36638231300
dc.contributor.scopusid6602802424
dc.contributor.scopusid6603919968
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.
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.
dc.identifier.endpage234
dc.identifier.issn0972-3757
dc.identifier.issue4
dc.identifier.scopus2-s2.0-79953273937
dc.identifier.startpage231
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.volume10
dc.identifier.wos000287340400004
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherKamla-Raj Enterprises
dc.relation.journalInternational Journal of Human Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectPrenatal diagnosis
dc.subjectTranslocation
dc.subjectAneuploidy
dc.subjectSperm FISH
dc.subjectGenetic counseling
dc.subjectIn-sıtu hybridization
dc.subjectConstitutional
dc.subjectRearrangements
dc.subjectChromosomal-aberrations
dc.subjectFragile sites
dc.subjectCarriers
dc.subjectBreakpoints
dc.subjectAmniocentesis
dc.subjectGenetics & heredity
dc.subject.emtreeAdult
dc.subject.emtreeAneuploidy
dc.subject.emtreeArticle
dc.subject.emtreeCase report
dc.subject.emtreeChromosome 11p
dc.subject.emtreeChromosome 13
dc.subject.emtreeChromosome 18
dc.subject.emtreeChromosome 21
dc.subject.emtreeChromosome 21q
dc.subject.emtreeChromosome G band
dc.subject.emtreeChromosome polymorphism
dc.subject.emtreeChromosome translocation 1
dc.subject.emtreeChromosome translocation 12
dc.subject.emtreeFemale
dc.subject.emtreeFluorescence in situ hybridization
dc.subject.emtreeGenetic association
dc.subject.emtreeGenetic risk
dc.subject.emtreeGenetic screening
dc.subject.emtreeHuman
dc.subject.emtreeKaryometry
dc.subject.emtreeKaryotype 47,XXX
dc.subject.emtreeMale
dc.subject.emtreePrenatal diagnosis
dc.subject.emtreeReciprocal chromosome translocation
dc.subject.emtreeRisk assessment
dc.subject.emtreeSemen analysis
dc.subject.emtreeTrisomy 21
dc.subject.emtreeX chromosome
dc.subject.emtreeY chromosome
dc.subject.scopusWolf-Hirschhorn Syndrome; Phenotype; EF Hand Motif
dc.subject.wosGenetics & heredity
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 risk
dc.typeArticle
dc.wos.quartileQ4
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Tıbbi Genetik Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Kadın Hastalıkları ve Doğum Ana Bilim Dalı
local.indexed.atScopus
local.indexed.atWOS

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