The Molecular Genetics And Cytogenetics Study On Three Chromosome Aberration Cases

There are hundreds of diseases from chromosomal aberration which have some characters such as mental retardation, development retardation and multiple congenital abnormalties. Although the carriers of chromosomal balanced translocation have normal phenotypes they would lead to infertility, abortion of fetus, malformation of fetus and congenital defects after born. Therefore, it is very important to perform chromosomal investigation for these patients' clinical diagnosis.At first, G-banding was performed to screen whether these patients had chromosomal aberration or not. Three rare cases with chromosomal aberration which can not be determined by G-banding were selected to perform further investingation. Then, silver-staining nucleolar organizer region (Ag-NOR), fluorescence in situ hybridization (FISH) and multicolor in situ hybridization (M-FISH) were used to determine their chromosomal aberration. Combining these techniques, we confirmed the final karyotypes of these cases which would be useful for clinical diagnosis.Case 1. The patient refered to our center for donor insemination because of oligozoospermatism with a karyotype 46, XX/47, XXY. In order to determine the number of sex chromosome in spermatozoa, FISH were performed. The result of FISH indicated the number of sex chromosome from patient's spermatozoa was normal, therefore his spermatozoa could be used for ICSI. As we know , the analysis of sex chromosome on ejaculated spermatozoa from the patient with a 46, XY/47, XXY by X/Y dual probe was reported for the first time in China. Case 2. The carrier recommended for chromosomal...