Study Of The Relationship Between Chromosome Abnormality And Reproductive,Growth Abnormality

Chromosomes are the carriers of genetic information, during the period of meiosis, structure or numbers of chromosome abnormality will lead to increase, deletion or reorder of genes, thus, people may suffer from reproductive,growth abnormality diseases. We aim to investigate the relationship between chromosome abnormality and reproductive,growth abnormality.By investigating 1864 genetic counseling patients in the Institute for Reproductive Medicine of Jilin Province, from October 2007 to July 2009, who were with azoospermia/oligospermia, abortion, stillbirth, growth abnormality. Their peripheral blood lymphocytes were cultured and the abnormal karyotypes were analyzed. Then prepare the chromosomal samples conventionally, count 30 metaphases and analyze 10 karyotypes by G-banding.We found that there were 173 cases of patients with abnormal karyotype, and rate of chromosome abnormality is 9.28%(173/1864). Among them, there were 686 cases with azoospermia/oligospermia, 84 cases of patients with abnormal karyotype, rate of abnormal karyotype is 12.24%(84/686); there were 908 cases(454 couples) with abortion, 32 cases of patients(64 pairs of couples, one side abnormal karyotype, the other one for normal karyotype)with abnormal karyotype, rate of abnormal karyotype is 3.52%(32/908); there were 270 cases with dysplasia, 57 cases of patients with abnormal karyotype, rate of abnormal karyotype is 21.11%(57/270). We also found that there were 55 cases of autosomal abnormality, accounting for 31.79% of all abnormal karyotypes. Balanced translocation accounts for 36.36% which form the largest percentage. There were 101 cases of sex chromosome abnormality, accounting for 58.38% of all abnormal karyotypes. Among them, a high percentage of the karyotype is 47,XXY, accounting for 73.27%. There were 17 cases of chromosome polymorphism, accounting for 9.83% of all abnormal karyotypes. It contains Y chromosome, secondary constriction, and variation of satellites.The rate of sex chromosome, autosomal abnormality and chromosome polymorphism in reproductive, growth abnormality patients is significantly higher than normal people. It shows that chromosome abnormal karyotype is relevant to reproductive, growth abnormality. Klinefelter syndrome is still the most common chromosomal disease, balanced translocation accounts for largest proportion of autosomal abnormality. Some rare or more complex abnormal karyptypes, its pathogenesis and clinical symptoms remains to be studied.