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Abstract
We reported a case of mosaic trisomy 2. The patient was a 29-year-old gravida who underwent amniocentesis at 20 weeks of gestation because of high risk of trisomy-21 in the first trimester screening. The test result revealed a karyotype of 47, XN, +2[10]/46, XX[40]. At 26 gestational weeks, the fetus was found severe fetal growth restriction and oligohydramnios which was considered to be at risk of mosaic trisomy 2. The pregnancy was terminated at 27+ gestational weeks. The fetus had obviously abnormal appearances, including dolichocephaly, low-set ears, and micromandible. Autopsy was not performed due to the parents' refusal. Key words: Trisomy; Chromosomes, human, pair 2; Chimera; Prenatal diagnosis; Amniocentesis; Abnormalities, multiple
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