Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Many providers offer preconception or prenatal FXS carrier screening. However, guidelines recommend screening only for those with a family history or undergoing fertility evaluation. Wider screening ha...

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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: Johansen Taber, Katherine, Lim‐Harashima, Jeraldine, Naemi, Harris, Goldberg, Jim
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2019
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6900367/
https://ncbi.nlm.nih.gov/pubmed/31694075
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1024
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