1例克氏综合征嵌合体胎儿的产前诊断及遗传学分析

Prenatal diagnosis and genetic analysis of a fetus with Klinefelter’s syndrome mosaicism

目的对一例47,XXY/46,XY嵌合型的胎儿的产前诊断及妊娠结局进行探讨及遗传学分析,以期为47,XXY/46,XY嵌合体胎儿的遗传咨询提供更多的参考依据。方法羊水标本进行细胞培养染色体核型G显带分析及低深度全基因组测序检测,外周血标本采用淋巴细胞培养染色体核型G显带分析。结果胎儿羊水细胞染色体核型为47,XXY[17]/46,XY[68],胎儿羊水基因组拷贝数变异测序检测结果为47,XXY[35%]/46,XN[65%]。胎儿出生1个月后,其核型在外周血染色体核型中得到验证。结论对47,XXY/46,XY嵌合型胎儿出生后及早诊断并进行遗传学分析有利于后期对于可能出现的症状得到早期诊断和治疗,从而改善患儿的生活质量。

Objective The prenatal diagnosis and pregnancy outcome of a 47,XXY/46,XY mosaic fetus were discussed and genetic analysis was carried out in order to provide more reference for genetic counseling of 47,XXY/46,XY mosaic 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.