Down syndrome: Epidemiology, Symptoms,Risk factors & Work-ups
Epidemiology Down syndrome is a chromosomal disorder. 95% is caused by trisomy 21, 1% by mosaics and 4% by translocation. At present, the proportion of mosaics is known to be slightly higher. In the case of Mosiacs, phenotype appears to be mild but eventually it grows and morphology specific to Down syndrome appears. All chromosomal studies should be performed in all patients suspected of Down syndrome and chromosomal studies should be conducted in their parents to prevent another case of translocation. If parents have Robertsonian translocation of t (21; 21), then the probability of a child being down sydrome is 50%. Current research indicates that targets such as DYRK1A and DSCR1 are the major targets of Down syndrome. Symptoms The main symptoms of Down syndrome are very diverse. First, the central nervous system problem. Hypotonia can appear and development is slow. Also, the moro reflex appears weak. Cognitive impairment usually appears and social development is relatively...