Cytogenetic Analysis of Down Syndrome Patients in Eastern Uttar Pradesh.

Introduction: Down syndrome (DS) or trisomy 21 is the most common type of chromosomal abnormalities in new-born. There are three types regular (Free) Trisomy 21, Translocation and Mosaic Trisomy 21. One third cases of Down syndrome, clinical diagnosis may not be confirmed. Therefore, in this study we aimed to confirm the suspected Down syndrome patients by a cytogenetic analysis and also evaluate the risk factors associated with Down syndrome. Material and methods: Total 30 suspected Down syndrome patients with aged between days 2 to 20 years old were included in this study, on the basis of well-defined inclusion criteria. The cytogenetic analysis, karyotype was carried out for all 30 suspected patients from peripheral blood and staining with Giemsa (G-Banding). Results: Total of 30 children were included in which 16 patients with Down syndrome and 14 with normal. Regular (Free) Trisomy 21 was found in 93.75% patients and translocation was seen in 6.25% case. Whereas Mosaic down syndrome was not seen in any cases. Among Down syndrome, 10 (62.50%) were males. The mean maternal age at birth was significantly higher (31.94±3.04 years) in Down syndrome Conclusion: Our results suggest that regular trisomy 21 is more common in Down syndrome cases. Moreover, higher maternal age was the major risk factor for Down’s syndrome.