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Article Synopsis
  • Prenatal diagnosis of mosaic trisomy 21 was successfully performed on a 41-year-old woman during an amniocentesis, revealing a mix of normal and abnormal cells in the fetus due to a Robertsonian translocation.
  • Despite initial concerns, subsequent tests showed significant normalization in fetal cells, leading to a reassuring outcome.
  • At 38 weeks, the mother delivered a healthy baby with normal development, confirming that even low-level chromosomal abnormalities can result in positive pregnancy outcomes.
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Complete cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes is common in mosaic trisomy 20 at amniocentesis with positive conventional cytogenetic analysis and negative chromosomal microarray analysis.

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