BACKGROUND Chromosomal abnormalities are an important cause of congenital anomalies. OBJECTIVE To evaluate the pattern of chromosomal imbalances in congenital anomaly child and to find out the frequency of internal anomalies associated with external anomalies. METHOD A total of 75 individuals in different age groups presenting clinical profile like syndromic features, congenital anomalies and facial dysmorphism were taken. All patients underwent clinical assessment, chest x-ray, echocardiogram

more »

... nd cytogenetic assessment through karyotyping. Chi-square test was used in the statistical analysis. RESULTS Out of 75 patients 40% are males, 60% are females of which chromosomal abnormalities detected 30% and 35% respectively; 62.66% have minor anomalies and major anomalies of 37.33%. Chromosomal abnormality detected includes Down's syndrome (77.77%), satellite 13 and 22(11.11%), turners syndrome (5.55%), trisomy 19(5.55%). Most common internal anomaly is congenital heart disease, predominantly atrioventricular septal defect. It has statistical significance with consanguinity (p <0.05). CONCLUSION Frequency of Down's syndrome is high, reflecting the need of screening in all antenatal women. Karyotyping is recommended in all dysmorphic children as it can bring to the diagnosis, treatment and prognosis and for genetic counselling of patients and families.