Publication:
Prevalence of X aneuploidies X structural abnormalities and 46 XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency

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dc.contributor.authorGEÇKİNLİ, BİLGEN BİLGE
dc.contributor.authorTOKSOY, GÜVEN
dc.contributor.authorSAYAR, CEYHAN
dc.contributor.authorSÖYLEMEZ, MEHMET ALİ
dc.contributor.authorYEŞİL, GÖZDE
dc.contributor.authorAYDIN, HATİP
dc.contributor.authorKARAMAN, ALİ
dc.contributor.authorDEVRANOĞLU, BELGIN
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-10-05T13:21:15Z
dc.date.available2019-10-05T13:21:15Z
dc.date.issued2014-11-01
dc.description.abstractOur objective was to identify the distribution of cytogenetic abnormalities of 175 Turkish women with primary amenorrhea (PA) or premature ovarian insufficiency (POI). A retrospective study was performed using medical records of 94 patients with PA and 81 patients with POI at the Genetics Department, Zeynep Kamil Women-s and Children-s Research and Training Hospital, Istanbul, Turkey. G-banded metaphase kaiyotype analysis were prepared and analyzed. Chromosomal abnormalities were present in 44 of 175 cases (25%). 15 were full blown or mosaic numerical X chromosome abnormalities (8.5%), 10 were full blown or mosaic X-chromosome structural anomalies (5.7%), one was X-autosome translocation (0.5%), 3 were autosomal anomalies (1.7%), 12 were XY kaiyotype (6.8%), one was 45,X/46,XY mosaic and 2 were full blown or mosaic structural anomalies of Y chromosome (1.7%). The prevalence of chromosomal abnormalities was 25% in this large series of Turkish women with primary amenorrhea or premature ovarian insufficiency, most cases involving X-aneuploidy or X-structural abnormalities or 46,XY karyotype. High prevalence of chromosomal abnormalities is associated with POI starting at an early age (average age: 26 years). (C) 2014 Elsevier Ireland Ltd. All rights reserved.
dc.identifier10.4274/tnd.04764
dc.identifier.citationGEÇKİNLİ B. B. , TOKSOY G., SAYAR C., SÖYLEMEZ M. A. , YEŞİL G., AYDIN H., KARAMAN A., DEVRANOĞLU B., -Prevalence of X aneuploidies X structural abnormalities and 46 XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency-, European Journal Of Obstetrics & Gynecology And Reproductive Biology, cilt.182, ss.211-215, 2014
dc.identifier.doi10.1016/j.ejogrb.2014.09.033
dc.identifier.pubmed25445102
dc.identifier.scopus84920693857
dc.identifier.urihttps://hdl.handle.net/20.500.12645/1998
dc.identifier.wosWOS:000347861500040
dc.language.isoen
dc.titlePrevalence of X aneuploidies X structural abnormalities and 46 XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency
dc.typeArticle
dspace.entity.typePublication
local.article.journalnameTURKISH JOURNAL OF NEUROLOGY
local.avesis.id302491dc-9a05-46de-a280-4a24da1727dc
local.avesis.response1868
local.publication.goal16 - Barış, Adalet ve Güçlü Kurumlar
local.publication.isinternational1
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relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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relation.isGoalOfPublication.latestForDiscovery7e7ce1dc-9556-4fa2-b604-c2ba181d38b9
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