Karyotype Analysis Of 313 Dysplastic Patients And 1882 Patients With Reproduction Abnormality

Background:Abnormal development usually refers to the birth defects and pubertal dysplasia. Birth defect means the body has the abnormal morphological structure and physiological function, or metabolic defect at birth. The abnormal morphological structure manifests as congenital malformations, such as spina bifida, anencephaly, cleft lip, abnormal limbs.The condition of congenital mental retardation, abnormal deaf and dumb are often caused by physiological function and metabolic defects. The abnormal secondary sex characteristics include short stature, primary amenorrhea and gonadal hypoplasia in female, and hypospadias or small testes in male. Reproductive abnormalities are the most common cases of genetic counseling for patients. The reasons of reproductive abnormalities and dysplasia are complex and various, among which the chromosome abnormality is the most important one.The chromosome is the carrier of genetic material, containing a variety of genes controlling the body traits, so the chromosomal abnormalities will lead to the increase, loss or other changes of genes, which will affect the normal function of the body, and lead to the formation of some genetic diseases. Human karyotype analysis is the analysis of the number and morphology of chromosomes in cells through the methods of banding technique.The chromosome abnormality, also called chromosome karyotype abnormalities, includes structural aberration of chromosome and abnormal chromosome numbers. Chromosome structural aberration mainly includes translocation, inversion, deletion, duplication and so on, and translocation is the most common one including reciprocal translocation and Robertsonian translocation. The chromosome number abnormalities include the abnormal number of the whole ploidy and the abnormal number of the chromosome. Chromosome disease is an important part of genetic diseases, including chromosome abnormalities, sex chromosome abnormalities and chromosome polymorphism, and they are the primary causes of the formation of chromosomal diseases.Objectives:Through the analysis on chromosome karyotype in peripheral blood in patients with developmental and reproduction abnormalities, we aimed to investigate the relationship between these diseases and chromosome abnormalities, find the solutions and strategies aiming at the problems,and finally reduce the burden of family and society and improve the quality of the people.Subjects:2195 persons taking genetic counseling or those with developmental or reproductive abnormalities through cytogenetic examination were enrolled from Liao Cheng Peoples’hospital of Shan Dong province between January 2012 and December 2015, among whom 313 were patients with developmental abnormalities (male 190,female 123).1520 cases had the history of abnormal pregnancy, among whom 749 cases were male and 771 were female. Infertile patients were 287, among whom 148 cases were male and 139 cases were female.60 cases had idiopathic azoospermia or oligozoospermia, and 15 cases had primary amenorrhea.Methods:Human peripheral blood lymphocytes were treated with phytohemagglutinin (PHA) and chromosome were analyzed to identify the karyotype on 2195 patients with chromosome G banding technique.Results:The results showed that among all the 2195 persons,.343 had abnormal karyotypes. The rate was 15.63% (343/2195). Among the 313 cases with dysplasia, 174 cases had abnormal karyotype of chromosome. The detection rate was 55.59% (174/313); Among the 1520 cases with the history of abnormal pregnancy,72 cases had abnormal karyotype, and the detection rate was 4.74%(72/1520); 71 patients had abnormal karyotype of chromosome of all the 287 Infertility cases, and the detection rate was 24.74%(71/287); Among the 60 patients patients with idiopathic azoospermia or oligozoospermia,21 patients had abnormal karyotype, and the detection rate was 35%(21/60); In those 15 cases with primary amenorrhea,5 patients had abnormal karyotype of chromosome, with the detection rate of 33.33%(5/15)。 Among the 343 cases with abnormal karyotype of chromosome, 208 were autosome abnormalities, with the detection rate of 60.64%(208/343); 35 cases had sex chromosome abnormalities,with the detection rate of 10.21%(35/343); 100 patients had chromosome polymorphism with the detection rate of 29.15%(100/343)。Conclusions:1. The detection rate of abnormal karyotype of chromosome in patients with developmental or abnormality is higher than that in general population。2. Trisomy 21 is the most common abnormal karyotype. The chromosome balance translocation is the most common one in chromosome structure aberration.3. Klinefelter syndrome is the most universial one of all the sex chromosome diseases.4. In chromosome polymorphism, large Y chromosome and small Y chromosome may lead to developmental abnormalities, male infertility, recurrent miscarriage and embryonic termination. The increased length of heterochromatic region in chromosome 1,9 and 16 may lead to developmental abnormalities, adverse pregnancy, infertility, and so on. The abnormal satellite zone in short arm of D/G group may also lead to the above diseases.5. With the rapid development of high-throughput sequencing technology, detection of chromosomal abnormalities through this kind of technology is the future research direction.