Authors: Aaishwarya Dilip Dhabe, Harsha Hemant Jaykar, Ravindra C. Nimbargi
Total 60 samples were received for karyotyping from patients of developmental delay, dysmorphism and mental retardation, of which 20 cases showed trisomy 21. There was an equal incidence in males and females. All neonates (20%) showed broad short neck and decreased muscle tone at birth. Most common feature in infants (50%) was depressed nasal bridge and slanting eyes. All children (30%) presented with developmental delay and mental retardation. Low set ears and depressed nasal bridge (80%) was the most common finding across all age groups. Most common CHD was VSD (20%). Robertsonian translocation involving 14q and 21q was seen in 15 % cases. One case presented with transient abnormal myelopoiesis at birth. One case presented with additional balanced t(10;18) Keywords: DS Downs syndrome, Robertsonian translocation, TAM Transient abnormal myelopoiesis
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