Prenatal diagnosis of a fetus with mosaic trisomy 2 and uniparental disomy of chromosome 2
This paper presented the prenatal genetic analysis of a case of mosaic trisomy 2 combined with uniparental disomy 2.The pregnant women underwent non-invasive prenatal testing in Zhuhai Center for Maternal and Child Health Care on February 2019,which indicated an increased number of chromosome 2.Subsequently,amniocentesis was performed at 21+2 weeks for prenatal diagnosis.No abnormalities were detected through the karyotype analysis of amniotic fluid cells.Chromosome microarray analysis of uncultured amniotic fluid cells revealed a duplication of 2.3 copies in chromosome 2 and 64.3 Mb regions of homozygosity in the 2q21.2q33.1 region.The comparison of single nucleotide information on fetus-parent chromosome 2 showed that the regions of homozygosity of the fetal 2q21.2q33.1 was paternal uniparental isodisomy(2),with the rest of chromosome 2 being paternal uniparental heterodisomy(2).Ultrasound results at 27+6,31+6,and 34+5 weeks of gestation showed continued exacerbation of fetal growth retardation with placental abnormalities and fetal blood flow spectrum abnormalities.Due to threatened preterm delivery at 35+3 weeks,The pregnant woman chose to give up the fetus and delivered a stillbirth.
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万方数据
维普
