Clinical analysis of 84 cases of the chromosomal abnormalities karyotype——Attaches 5 examples of chromosome abnormal nuclear type of the first report in the world

Objective To discuss human chromosome anomalies and their relation with human diseases,as well as their application in clinical practice.Methods From January to December 2010,a total of 498 patients was studied for cytogenetic testing,due to abnormal past pregnancy history,abnormal hermaphrodite,and family history of genetic disease,etc.Routine periopheral blood chromosome analysis was done,for G-banding,with 30 counting and 3 karyptyping and abnormal doubles the analysis.Further C and R banding were also used as needed.Results From 498 patients studied,84 samples were found to have abnormal chromosomes/karyotypes.Detection rate was 16.87％,with 79 autosomal anomalies (94.05 ％ ) and 5 sex chromosomes ( 5.95 ％ ).As confirmed by the Medical Genetics Center of China,there were 5 cases with novel abnormal karyotypes in the world ( 5.95％ ).Conclusion Chromosome analysis is very helpful for carrier detection,to reduce human disease,and to help make clinical diagnosis.These information is to be useful for clincal diagonsis,prognosis and management of pregnancy and newborn. Key words: Chromosome; Abnormalities karyotype; Bad pregnancy history; Etiology; Clinical analysis