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Article

A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.

Journal of human genetics - 1 Jun 2020

Kim Jin-Kyung, Jeong Ji-Eun, Choi Jong-Moon, Kim Gu-Hwan, Yoo Han-Wook

Abstract excerpt

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, especially in males. Females with FXS tend to be relatively mildly affected because of compensation by a second X chromosome with a normal FMR1 gene. In most cases, FXS is caused by an expansion of the CGG repeats (>200 triplets, full mutation, FM) in the 5'-untranslated region of the FMR1 gene. Premutation alleles (PM, 55-200...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32144408
DOI: 10.1038/s10038-020-0735-9

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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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