ArticleMolecular cytogenetics2025
Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features.
Article in Molecular cytogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Prenatal diagnosis and follow-up of a child with mosaic tetrasomy 9p without obvious abnormal clinical manifestations.Molecular cytogenetics · 2026Article
- Case Report: Rare triple-line chromosome 9 mosaicism (47,XX,+del(9)(q13)/47,XX,+9/46,XX) associated with severe neurodevelopmental impairment and congenital anomalies.Frontiers in genetics · 2026Article
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9 authors.
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Abstract
introductionA unique case of mosaic tetrasomy 9p was found using CNV-seq analysis of uncultured amniocytes, which was missed by karyotype analysis of cultured amniocytes. CASE REPORT: The karyotype was determined to be 46, XY, with mosaic duplication of chromosome 9 from p24.3 to p13.1 indicated by CNV sequencing in the initial amniocentesis. Subsequent prenatal testing revealed a normal karyotype, with FISH analysis of cultured amniocytes identifying 2% tetrasomy of chromosome 9p. The karyotype of cord blood revealed mosaic tetrasomy 9p, while CNV-seq on uncultured cord blood indicated nearly complete tetrasomy 9p.
conclusionsIt is recommended to conduct CNV-seq or CMA on uncultured amniocytes in conjunction with karyotype analysis on cultured amniocytes. The presence of mosaic tetrasomy 9p during amniocentesis may result in either a benign condition or an adverse outcome, necessitating informed decision-making for pregnant women facing such circumstances.
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