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Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic villus (CV...

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Detalles Bibliográficos
Autores principales: Kooper, Angelique JA, Pieters, Jacqueline JPM, Faas, Brigitte HW, Hoefsloot, Lies H, van der Burgt, Ineke, Zondervan, Hans A, Smits, Arie PT
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293020/
https://www.ncbi.nlm.nih.gov/pubmed/22281113
http://dx.doi.org/10.1186/1755-8166-5-7