Application Of Cytogenetic And Molecular Genetic Techniques In Diagnosing Sexual Chromosome Complex Structural Abnormalities

Disorders of Sex Development(DSD)contains a series of complex diseases difficult to classify and diagnose.Changes in genetic material lead to the vast majority of DSDs,which is a common human genetic disease.According to different cytogenetic karyotypes,sexual dysplasia disease can be divided into sex chromosomes DSD,46,XX DSD and 46,XY DSD,of which chromosomal DSD patients with complex and diverse karyotype.At present,the main means of detecting chromosomal abnormalities is to carry out chromosome G karyotype analysis after cell culture.However,this method is traditional and limited,including the metaphase detection only,the result influenced by the quality and quantity of metaphase,and nondetectable chromosomes microdeletion,inversion,rearrangement and mark chromosome.Thus the karyotype analysis of chromosomes in complex DSD patients should be combined with a variety of cells and molecular genetic techniques for joint diagnosis.Objective To explore the clinical application value of multiple cytogenetic and molecular genetic techniques in the diagnosing of sexual chromosome complex structural abnormalities.Methods Using chromosome G-banding,chromosomal microarray analysis(CMA),polymerase chain reaction(PCR)and fluorescence in situ hybridization(FISH)to detect 11 cases of sexual chromosome complex structural abnormalities and to determine the origins and structural features of their chromosome abnormalities.Results Combined with CMA and FISH,G-binding identified the origins of these11 patients' sex chromosome structural complexities.In 8 patients with social gender as female,4 had derivative chromosomes of which the abnormal segments were translocated from the X chromosome,while the other 4 had derivative chromosomes of which the abnormal structures were involved in X/Y chromosomal recombination.In 3patients with social gender as male,Y chromosome partial deletion were commonlyfound.In all the 11 patients,3 sexually dysplastic males and 1 short stature female were found to have SRY amplified production.Conclusion The application of multiple cytogenetic and molecular genetic techniques can provide important genetic basis for the diagnoses,nosogenesis and therapy of sexual chromosome structural abnormal patients.