Prenatal diagnosis and genetic analysis of a fetus with Klinefelter's syndrome mosaicism
Objective The prenatal diagnosis and pregnancy outcome of a 47,XXY/46,XY mosaic fetus were dis-cussed and genetic analysis was carried out in order to provide more reference for genetic counseling of 47,XXY/46,XY mo-saic fetus.Methods G-banding karyotyping analysis and low depth whole genome sequencing were used to delineate the structural chromosomal aberration of the fetus.And the newborn was also subjected to karyotyping analysis.Results The fetus was found to have a karyotype of 47,XXY[17]/46,XY[68].And the copy number variation sequencing result was 47,XXY[35％]/46,XN[65％].These results were verified in the newborn by peripheral blood karyotypes analysis after 1 month birth.Conclusion The karyotype of the fetus in the newborn is verified in the chromosome karyotype of peripheral blood.Early diagnosis and genetic analysis of the fetus with 47,XXY/46,XY mosaicism in the newborn is conducive to early diagnosis and treatment of possible symptoms in the later period,so as to improve the quality of life of the children.
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