Down sendromu ön tanılı 584 olguda sitogenetik çalışma
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Date
2007
Authors
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
ÖZET
Canlı doğan bebekler arasında en yaygın görülen ve mental retardasyonun en sık
gösterilebilir nedeni olan Down sendromunun sitogenetik tipleri özellikle tekrarlama
riski açısından önemli farklar oluşturmakta ve genetik danışmada yönlendirici
olmaktadır.
Bu çalışma, Ocak 1996 – Aralık 2006 tarihleri arasında, Anabilim dalımıza refere
edilen klinik olarak Down sendromu ön tanısı konulmuş 232 kız (%39.7), 352 erkek
(%60.3) olmak üzere toplam 584 olgunun sitogenetik tiplerini ve sıklıklarını
belirlemek amacıyla planlanmıştır. Sitogenetik analiz için periferik kan kültürü
yöntemi uygulanmış, 128 olgunun (%21.9) normal, 456 olgunun (%78.1) Down
sendromu karyotipine sahip olduğu görülmüştür.
Down sendromlu olguların 432’sinde (%94.7) regüler tip, 14’ünde (%3.1)
translokasyon tipi [8 t(14;21), 6 t(21;21)], 4’ünde (%0.9) mozaik tipi ve 6’sında (%1.3)
inv(9) ile asosiye regüler tip Down sendromu karyotipi saptanmıştır.14/21 tipi
translokasyonların 4’ünün (%50.0) ailesel, diğer 14/21 ve 21/21 tipi
translokasyonların de novo olduğu bulunmuştur. 456 olguda cinsiyet oranı 1.64: 1
(283 erkek:173 kız), anne yaş ortalaması 34.25 ± 7.76 ve translokasyon tipi Down
sendromu olguların anne yaş ortalaması da 28.29 ± 5.0 olarak saptanmıştır.
Çalışma sonuçları, uygun bir genetik danışmanın verilebilmesi için sitogenetik
analiz ile Down sendromu klinik ön tanısının doğrulanması gerekliğini ortaya
koymaktadır.
The cytogenetic types of Down syndrome, which is a widespread disease and the most common cause of mental retardation among live-borne babies, vary according to the risk of recurrance and has been a guide for the genetic counseling. This study was conducted between January 1996 and December 2006 in our department. The study included 584 patients with clinical diagnosis of Down syndrome. There were 232 (39.7%) female and 352 (60.3%) male patients. The aim of the study was to investigate the cytogenetic types and its incidence in this group of patients. By using peripheral blood culture method for cytogenetic analysis, it was found that 128 cases (21.9%) had normal karyotypes, whereas 456 (%78.1) cases had karyotype of Down syndrome. There was regular type in 432 patients (%94.7), translocation type in 14 (%3.1) [8 t(14;21), 6 t(21;21)], mosaic type in 4 (%0.9), and 6 patients (%1.3) associated with inv(9) with regular type karyotype in patients with Down syndrome. Four of 14/21 type of translocations were familial (50.0%) and other 14/21 and 21/21 types translocations were found to be de novo. The male to female ratio was 1.64: 1 (283 male:173 female), mean age of mothers was 34.25 ± 7.76 and of mothers having translocation type of Down syndrome, it was 28.29 ± 5.0. The results of this study point out the necessity of cytogenetic analysis for appropriate genetic counseling in establishing the clinical diagnosis of Down syndrome.
The cytogenetic types of Down syndrome, which is a widespread disease and the most common cause of mental retardation among live-borne babies, vary according to the risk of recurrance and has been a guide for the genetic counseling. This study was conducted between January 1996 and December 2006 in our department. The study included 584 patients with clinical diagnosis of Down syndrome. There were 232 (39.7%) female and 352 (60.3%) male patients. The aim of the study was to investigate the cytogenetic types and its incidence in this group of patients. By using peripheral blood culture method for cytogenetic analysis, it was found that 128 cases (21.9%) had normal karyotypes, whereas 456 (%78.1) cases had karyotype of Down syndrome. There was regular type in 432 patients (%94.7), translocation type in 14 (%3.1) [8 t(14;21), 6 t(21;21)], mosaic type in 4 (%0.9), and 6 patients (%1.3) associated with inv(9) with regular type karyotype in patients with Down syndrome. Four of 14/21 type of translocations were familial (50.0%) and other 14/21 and 21/21 types translocations were found to be de novo. The male to female ratio was 1.64: 1 (283 male:173 female), mean age of mothers was 34.25 ± 7.76 and of mothers having translocation type of Down syndrome, it was 28.29 ± 5.0. The results of this study point out the necessity of cytogenetic analysis for appropriate genetic counseling in establishing the clinical diagnosis of Down syndrome.
Description
Keywords
Down sendromu, Trizomi 21, Robertson tipi translokasyon, Sitogenetik analiz, Down syndrome, Trisomy 21, Robertsonian translocation, Cytogenetic analysis
Journal or Series
Dicle Tıp Dergisi
WoS Q Value
Scopus Q Value
Volume
34
Issue
4
Citation
Alp, M.N., Oral, D. ve Budak, T. (2007). Down sendromu ön tanılı 584 olguda sitogenetik çalışma. Dicle Tıp Dergisi, 34(4), 283-289.
