Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction

Fragile X syndrome (FXS) is usually associated with a CGG repeat expansion >200 repeats within the FMR1 gene, known as a full mutation (FM). FM alleles produce abnormal methylation of the FMR1 promoter with reduction or silencing of FMR1 gene expression. Furthermore, premutation (PM: 55–199 CGGs)...

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Detalles Bibliográficos
Autores principales: Prawer, Yael, Hunter, Matthew, Cronin, Sara, Ling, Ling, Aliaga Vera, Solange, Fahey, Michael, Gelfand, Nikki, Oertel, Ralph, Bartlett, Essra, Francis, David, Godler, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6027392/
https://www.ncbi.nlm.nih.gov/pubmed/29880767
http://dx.doi.org/10.3390/genes9060287

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6027392/
https://www.ncbi.nlm.nih.gov/pubmed/29880767
http://dx.doi.org/10.3390/genes9060287

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