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Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

For the rapid detection of common aneuploidies either PCR or Fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells are widely used. There are different commercial suppliers providing FISH assays for the detection of trisomies affecting the Down's syndrome critical regions...

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Detalles Bibliográficos
Autores principales: Eckmann-Scholz, Christel, Gesk, Stefan, Nagel, Inga, Haake, Andrea, Bens, Susanne, Heidemann, Simone, Kautza, Monika, Timke, Christian, Siebert, Reiner, Caliebe, Almuth
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2944126/
https://www.ncbi.nlm.nih.gov/pubmed/20815924
http://dx.doi.org/10.1186/1755-8166-3-16