Distribusi Penderita Sindrom Down Berdasarkan Analisis Sitogenetika Di Laboratorium CEBIOR

Abstract

Background : Down syndrome is a condition when a person has an extra number of chromosomes 21 in the form of either classical trisomy 21, translocation or mosaic. The age of the mother is one of the factors that increases the risk of having a baby with Down syndrome. Down syndrome is one of indications for cytogenetic analysis in which it shows the chromosome abnormalities. Aim : To determine the distribution of chromosome abnormalities in patients with Down syndrome referred to Cebior Laboratory from 2006 until April 2015. Methods : This study is a prospective and retrospective descriptive with cross-sectional design. Results : Amongst 95 patients, there were 38 (40,0%) patients with karyotype 47,XX, +21; 50 (52,6%) patients with 47,XY, +21; 1 (1,1%) patients with 47,XX+21/ 46,XX; 2 (2,1%) patients with 47,XY, +21/ 46,XY; 1 (1,1%) patient with 46,XY, +21, t(8;21); 2 (2,1%) patient with 46,XX,+21,t(21;21)(q10;q10); and 1 (1,1%) patient with 46, XY, +21,t(21;21)(q10:q10). The distribution of maternal age with Down syndrome in descending order were 36-40 years old (31,6%), 31-35 years old (24,2%), 26-30 years old (22,1%), 41-45 years old (14,7%), and 20-25 years old (7,4%). Conclusion : Most patients with Down syndrome had classical trisomy 21. The majority of babies with Down syndrome were born from mothers aged older than 35 years old. Therefore advanced maternal age have a higher risk for having a baby with Down syndrome.