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Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory’s Retrospective Experience

Prenatal cell-free DNA screening (cfDNA) can identify fetal chromosome abnormalities beyond common trisomies. Emanuel syndrome (ES), caused by an unbalanced translocation between chromosomes 11 and 22, has lacked a reliable prenatal screening option for families with a carrier parent. A cohort of ca...

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Detalles Bibliográficos
Autores principales: Soster, Erica, Dyr, Brittany, Caldwell, Samantha, Sussman, Amanda, Magharyous, Hany
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606745/
https://www.ncbi.nlm.nih.gov/pubmed/37895273
http://dx.doi.org/10.3390/genes14101924