International Journal of Clinical Research

Objective By analyzing the karyotype distribution characteristics of 1077 children with trisomy 21, the formation mechanism of trisomy 21 was explored, and genetic counseling and prevention were proposed. Methods Specimens from 1077 patients with trisomy 21, including 607 males and 470 females, were collected for peripheral blood chromosome G band karyotyping. Results According to the distribution of karyotype results, 1002 cases of simple trisomy 21 were detected among 1077 children with trisomy 21, accounting for 93.03%; There were 55 cases of trisomy 21, accounting for 5.11%; There were 20 cases of chimeric 21 trisomy, accounting for 1.86%. According to the distribution of age groups (excluding non-statistically significant data), the detection rate of 21 three bodies in people aged 1-10 and 0-1 years old is the highest. According to the distribution of departments sent for examination (excluding non-statistically significant data), neonatal and pediatric related departments had the highest detection rate. Conclusion Trisomy 21 is a more common disease in neonatal birth defects, with clinical features such as mental retardation, special appearance, and developmental delay, and its pathogenesis is mainly related to maternal age, genetics, environment and other factors. Karyotyping is one of the more mature genetic diagnosis techniques and has clinical value in the field of birth defects.

21 trisomy syndrome; Karyotype analysis of Chromosome G Band; Clinical cause