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Article

Size and methylation mosaicism in males with Fragile X syndrome.

Expert review of molecular diagnostics - 1 Nov 2017

Jiraanont Poonnada, Kumar Madhur, Tang Hiu-Tung, Espinal Glenda, Hagerman Paul J, Hagerman Randi J, Chutabhakdikul Nuanchan, Tassone Flora

Abstract excerpt

BACKGROUND: Size and methylation mosaicism are a common phenomenon in Fragile X syndrome (FXS). Here, the authors report a study on twelve fragile X males with atypical mosaicism, seven of whom presented with autism spectrum disorder. METHODS: A combination of Southern Blot and PCR analysis was used for CGG allele sizing and methylation. FMR1 mRNA and FMRP expression were measured by qRT-PCR and by Homogeneous...

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Topics

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Share to DNA Methylation
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Gene Expression Regulation

Share to Mosaicism

Share to RNA, Messenger

Share to Sequence Deletion

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 28929824
DOI: 10.1080/14737159.2017.1377612
PMCID: PMC5924764

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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