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Partial trisomy of 15q due to inserted inverted duplication

dc.contributor.authorBerry, AC
dc.contributor.authorElcioglu, N
dc.contributor.authorFear, C
dc.date.accessioned2021-03-03T13:33:50Z
dc.date.available2021-03-03T13:33:50Z
dc.date.issued1997
dc.identifier.citationElcioglu N., Fear C., Berry A., "Partial trisomy of 15q due to inserted inverted duplication", CLINICAL GENETICS, cilt.52, sa.6, ss.442-445, 1997
dc.identifier.issn0009-9163
dc.identifier.otherav_34c22006-b188-4279-a80a-1435c88cdfc4
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/39669
dc.description.abstractA de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3-->15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan-like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas.
dc.language.isoeng
dc.subjectTıbbi Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titlePartial trisomy of 15q due to inserted inverted duplication
dc.typeMakale
dc.relation.journalCLINICAL GENETICS
dc.contributor.department, ,
dc.identifier.volume52
dc.identifier.issue6
dc.identifier.startpage442
dc.identifier.endpage445
dc.contributor.firstauthorID119956


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