481 Amniyosentez, koryon villus biyopsisi ve kordosentez örneğinin prenatal genetik tanısı
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Date
2007
Journal Title
Journal ISSN
Volume Title
Publisher
Dicle Üniversitesi Tıp Fakültesi
Access Rights
Attribution-NonCommercial 3.0 United States
info:eu-repo/semantics/openAccess
info:eu-repo/semantics/openAccess
Abstract
Bu çalışmada; 1999–2001 tarihleri arasında Dicle Üniversitesi Tıp
Fakültesi Tıbbi Biyoloji A.D. Prenatal Tanı Laboratuvarına sitogenetik tanı
amacıyla gönderilen Koryon Villi Örneklemesi(CVS), Amniyosentez (AS) ve
Kordosentez (KS)’e ait toplam 481 örnek materyal değerlendirilmiştir.
Toplam 24 örnekte anormal kromozom kuruluşu saptanmıştır. Bunlardan
11 örnekte Trizomi 21 (Down Sendromu), 2 örnekte 14 ve 21 nolu
kromozomlar arasında Robertson tipi translokasyonlu Down Sendromu, 1
örnekte mozaik Down Sendromu, 1 örnekte dengeli translokasyon
kromozomu taşıyıcılığı, 2 örnekte Turner Sendromu, 1 örnekte Triple X
Sendromu, 2 örnekte Triploidi, 1 örnekte Parsiyel trizomi 3, 1 örnekte
derivativ kromozom, 1 örnekte tekrarlamayan sayısal ve yapısal düzensizlik,
1 örnekte de marker kromozom kuruluşu saptanmıştır. 15 örnekte üreme
olmamıştır. Yanlış pozitif -negatif sonucumuz yoktur.
In this study, we evaluated a total of 481 amniocentesis , cordocentesis and corion villi sample specimens from patients who were referred to the Prenatal Diagnostic Laboratory of Department of Medical Biology and Genetics Department of Medical Faculty of University of Dicle, between 1999 and 2001. A total of 24 specimens were found cytogenetically abnormal, of which 11 were trisomy 21 ( Down Syndrome), two were Down Syndrome with Robertsonian type of translocation between chromosome 14 and 21, one was mosaic Down Syndrome , one was balanced translocated chromosome carrier, two were Turner Syndrome, one was triple X syndrome, two were triploidy, one was partial trisomy 3, one was derivative chromosome, one was nonrepetitive numerical and structural abnormality, and one was marker chromosome. Unfortunately, we could not have results in 15 of culture samples.
In this study, we evaluated a total of 481 amniocentesis , cordocentesis and corion villi sample specimens from patients who were referred to the Prenatal Diagnostic Laboratory of Department of Medical Biology and Genetics Department of Medical Faculty of University of Dicle, between 1999 and 2001. A total of 24 specimens were found cytogenetically abnormal, of which 11 were trisomy 21 ( Down Syndrome), two were Down Syndrome with Robertsonian type of translocation between chromosome 14 and 21, one was mosaic Down Syndrome , one was balanced translocated chromosome carrier, two were Turner Syndrome, one was triple X syndrome, two were triploidy, one was partial trisomy 3, one was derivative chromosome, one was nonrepetitive numerical and structural abnormality, and one was marker chromosome. Unfortunately, we could not have results in 15 of culture samples.
Description
Keywords
Prenatal tanı, Kromozom analizi, Prenatal diagnosis, Kromozom anomalisi, Chromosome analysis, Chromosomal abnormality
Journal or Series
Dicle Tıp Dergisi
WoS Q Value
Scopus Q Value
Volume
34
Issue
3
Citation
Türkyılmaz, A., Alp, M.N. ve Budak, T. (2007). 481 Amniyosentez, koryon villus biyopsisi ve kordosentez örneğinin prenatal genetik tanısı. Dicle Tıp Dergisi, 34(3), 187-190.
