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Article

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2012

Yrigollen Carolyn M, Durbin-Johnson Blythe, Gane Louise, Nelson David L, Hagerman Randi, Hagerman Paul J, Tassone Flora

Abstract excerpt

PURPOSE: The ability to accurately predict the likelihood of expansion of the CGG repeats in the FMR1 gene to a full mutation is of critical importance for genetic counseling of women who are carriers of premutation alleles (55-200 CGG repeats) and who are weighing the risk of having a child with fragile X syndrome. The presence of AGG interruptions within the CGG repeat tract is thought to decrease the...

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Identifiers

PMID: 22498846
DOI: 10.1038/gim.2012.34
PMCID: PMC3990283

Genes

FMR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.PMID 22498846Read ↗

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.Semantic proximity Read ↗

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.Semantic proximity Read ↗

The role of AGG interruptions in the transcription of FMR1 premutation alleles.Semantic proximity Read ↗

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.Semantic proximity Read ↗

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

Improved Assays for AGG Interruptions in Fragile X Premutation Carriers.Semantic proximity Read ↗

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?Semantic proximity Read ↗

Length of uninterrupted CGG repeats determines instability in the FMR1 gene.Semantic proximity Read ↗

Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.Semantic proximity Read ↗

Refining reproductive risk for FMR1 premutation carriers in the general obstetric population.Semantic proximity Read ↗

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.Semantic proximity Read ↗

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.Semantic proximity Read ↗

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