Abstract：
OBJECTIVE: Herein, we present a case of mosaic trisomy 6 detected by amniocentesis.
METHODS: Amniocentesis (G-banding) was performed at 17 weeks of gestation; the results were 47,XY,+6[3]/46,XY[12]. Fetal screening ultrasonography showed no morphological abnormalities, and the parents desired to continue the pregnancy. The infant was delivered vaginally at 39 weeks\' gestation. The male infant weighed 3002 g at birth with no morphological abnormalities. G-banding karyotype analysis performed on the infant\'s peripheral blood revealed 46,XY[20]. FISH analysis revealed trisomy signals on chromosome 6 in 1-4 out of 100 cells from the placenta. The single nucleotide polymorphism microarray of the umbilical cord blood revealed no abnormalities. Methylation analysis of umbilical cord blood revealed no abnormalities in PLAGL1. No disorders were observed at one year of age.
CONCLUSIONS: When amniocentesis reveals chromosomal mosaicism, it is essential to provide a thorough fetal ultrasound examination and careful genetic counseling to support the couples\' decision-making.
METHODS: Amniocentesis (G-banding) was performed at 17 weeks of gestation; the results were 47,XY,+6[3]/46,XY[12]. Fetal screening ultrasonography showed no morphological abnormalities, and the parents desired to continue the pregnancy. The infant was delivered vaginally at 39 weeks\' gestation. The male infant weighed 3002 g at birth with no morphological abnormalities. G-banding karyotype analysis performed on the infant\'s peripheral blood revealed 46,XY[20]. FISH analysis revealed trisomy signals on chromosome 6 in 1-4 out of 100 cells from the placenta. The single nucleotide polymorphism microarray of the umbilical cord blood revealed no abnormalities. Methylation analysis of umbilical cord blood revealed no abnormalities in PLAGL1. No disorders were observed at one year of age.
CONCLUSIONS: When amniocentesis reveals chromosomal mosaicism, it is essential to provide a thorough fetal ultrasound examination and careful genetic counseling to support the couples\' decision-making.
摘要：
目的：这里，我们介绍了一例羊膜穿刺术检测到的镶嵌三体6。
方法：在妊娠17周时进行羊膜穿刺术（G带）；结果为47，XY，+6[3]/46,XY[12]。胎儿筛查超声检查显示无形态学异常，父母希望继续怀孕。婴儿在妊娠39周时经阴道分娩。男婴出生时重3002g，无形态异常。对婴儿外周血进行的G显带核型分析显示46,XY[20]。FISH分析揭示了来自胎盘的100个细胞中的1-4个中的6号染色体上的三体性信号。脐带血的单核苷酸多态性微阵列未显示异常。脐带血的甲基化分析显示PLAGL1没有异常。在一岁时没有观察到疾病。
结论：当羊膜穿刺术显示染色体镶嵌时，提供全面的胎儿超声检查和仔细的遗传咨询以支持夫妇的决策是至关重要的。
方法：在妊娠17周时进行羊膜穿刺术（G带）；结果为47，XY，+6[3]/46,XY[12]。胎儿筛查超声检查显示无形态学异常，父母希望继续怀孕。婴儿在妊娠39周时经阴道分娩。男婴出生时重3002g，无形态异常。对婴儿外周血进行的G显带核型分析显示46,XY[20]。FISH分析揭示了来自胎盘的100个细胞中的1-4个中的6号染色体上的三体性信号。脐带血的单核苷酸多态性微阵列未显示异常。脐带血的甲基化分析显示PLAGL1没有异常。在一岁时没有观察到疾病。
结论：当羊膜穿刺术显示染色体镶嵌时，提供全面的胎儿超声检查和仔细的遗传咨询以支持夫妇的决策是至关重要的。
