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Article

Diagnostic value of molecular approach in screening for fragile X premutation cases.

Irish journal of medical science - 1 Oct 2023

Refeat Miral M, El Saied Mostafa M, Abdel Raouf Ehab R

Abstract excerpt

BACKGROUND: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, caused by CGG-repeats expansion (> 200 repeats). Premutation alleles (PM) (55-200 CGG repeats) are associated with tremor ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and autistic problems. AIM: To screen the frequency of premutation carriers using molecular diagnostic assays,...

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Identifiers

PMID: 36409419
DOI: 10.1007/s11845-022-03166-9
PMCID: PMC10522757

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