ANALISIS KROMOSOM PADA PENDERITA DENGAN ANOMALI KONGENITAL MULTIPEL DI LABORATORIUM CEBIOR

Abstract

Background : Multiple congenital anomalies are structural or functional disorders including two or more organ systems that occured during prenatal period and appear after birth. Multiple congenital anomalies count for 7% of all congenital anomaly cases or with rate of 15.9 cases per 10.000 birth. Untill today, the true risk factors of multiple congenital anomalies are still debatable, this condition makes the occurence of this disorder difficult to prevent. Aim : To analyze the prevalence of chromosomal abnormality and its pattern in patient with multiple congenital anomalies at Center for Biomedical Research (CEBIOR). Method : This was a retrospective and prospective designed study. This study included patients with multiple congenital anomalies who referred to CEBIOR for chromosomal analysis from Januari 2006 to April 2015 . Result : The lowest number patients with multiple congenital anomalies referred to CEBIOR was 1 case in 2006, whilst the highest number was 12 cases in 2014. The patients with multiple congenital anomalies were dominated by male (n=35) compared to female (n=18). Twenty nine patients had male karyotype, 46,XY, while those with 46,XX karyotype were 14 cases, 1 case with 47,XXY, 7 cases with trisomy 21, 1 case with trisomy 18, and 1 case with deletion on 9q chromosome. Patients with multiple congenital anomalies were mostly below 5 years old (25 cases) followed by patients between 5-10 years old (13 patients) and 15 patients were older than 10 years old. Conclusion : The incidence of multiple congenital anomalies at CEBIOR was increased. The patients were mostly below 5 years old. Chromosomal abnormality were mostly trisomi 21. Keywords : Multiple congenital anomalies, prevalence, chromosome