Confirmation of the extra small chromosome in abnormality karyotype by PCR and FISH / 中南大学学报(医学版)

OBJECTIVE@#To investigate the source of the extra small chromosome in a patient with karyotype 45,X[115]/46,X + mar[45]/46,XY[29].@*METHODS@#The SRYgene was detected by PCR, and the chromosome Y probe that labeled with biotin was detected by fluorescence in situ hybridization.@*RESULTS@#SRY gene is detected positive and the mar chromosome showed positive signal with FISH in human chromosome Y probe pool.@*CONCLUSION@#The extra small chromosome is part of the chromosome Y.