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Article

Refining reproductive risk for FMR1 premutation carriers in the general obstetric population.

American journal of medical genetics. Part A - 1 May 2022

Owens Kailey M, Terhaar Catherine, Zdrodowski Jamie, Johnson Lisa R, Eveleigh Deepa

Abstract excerpt

Female FMR1 premutation (FMR1 PM) carriers for fragile X syndrome (FXS) are at risk to have a child with FXS based on their CGG repeat size and AGG interruption number. Studies examining this risk in unselected populations of female PM carriers are lacking. This retrospective cohort study analyzed carrier status, CGG repeat length, AGG interruption result, and reproductive risk refinement in a population of...

Topics

Alleles
Child
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Humans
Retrospective Studies
Trinucleotide Repeat Expansion
Trinucleotide Repeats

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35129870
DOI: 10.1002/ajmg.a.62666

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Refining reproductive risk for FMR1 premutation carriers in the general obstetric population.PMID 35129870Read ↗

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