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High-level mosaic trisomy 9 at amniocentesis in a pregnancy with intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 9 cell line and a favorable fetal outcome.
Follow-up of a 4-year-old girl with a favorable outcome and a prenatal history of low-level mosaic trisomy 9 at amniocentesis.
Low-level mosaic trisomy 9 at amniocentesis in a pregnancy with a positive non-invasive prenatal testing result for trisomy 9, intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 9 cell line and a favorable fetal outcome.
High-level mosaic trisomy 9 at amniocentesis in a pregnancy with a positive non-invasive prenatal testing result for trisomy 9, intrauterine growth restriction, fetal structural abnormality, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, maternal uniparental disomy 9, a normal karyotype at birth, perinatal progressive decrease of the trisomy 9 cell line, concomitant heterozygous mutations of POLG2 and DCC and an adverse fetal outcome.
High-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction, a positive non-invasive prenatal testing for trisomy 9, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 9 cell line, a heterozygous missense mutation of the PIEZO2 gene and an adverse fetal outcome.