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dc.contributor.authorHacihanefioglu, S
dc.contributor.authorCenani, A
dc.contributor.authorGuven, GS
dc.contributor.authorSilahtaroglu, AN
dc.contributor.authorTumer, Z
dc.contributor.authorTommerup, N
dc.contributor.authorWirth, J
dc.date.accessioned2021-03-05T12:47:20Z
dc.date.available2021-03-05T12:47:20Z
dc.date.issued1998
dc.identifier.citationSilahtaroglu A., Hacihanefioglu S., Guven G., Cenani A., Wirth J., Tommerup N., Tumer Z., "Not para-, not peri-, but centric inversion of chromosome 12", JOURNAL OF MEDICAL GENETICS, cilt.35, ss.682-684, 1998
dc.identifier.issn0022-2593
dc.identifier.othervv_1032021
dc.identifier.otherav_aee815da-3e33-41a9-9854-6b017d5a3dba
dc.identifier.urihttp://hdl.handle.net/20.500.12627/116677
dc.identifier.urihttps://doi.org/10.1136/jmg.35.8.682
dc.description.abstractA 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a break in the alphoid repeats followed by an inversion within the short arm, resulting in a pseudodicentric chromosome. Further FISH analyses using telomeric and subtelomeric probes showed that the other breakpoint was in the subtelomeric region of the short arm. The karyotype is designated 47,XXY,inv(12) (p10p13.3). To our knowledge this is the first report of a case of "centric inversion".
dc.language.isoeng
dc.subjectTemel Bilimler
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.titleNot para-, not peri-, but centric inversion of chromosome 12
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.department, ,
dc.identifier.volume35
dc.identifier.issue8
dc.identifier.startpage682
dc.identifier.endpage684
dc.contributor.firstauthorID121238


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