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Article

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

BMC medical genetics - 10 May 2018

Jorge Paula, Garcia Elsa, Gonçalves Ana, Marques Isabel, Maia Nuno, Rodrigues Bárbara, Santos Helena, Fonseca Jacinta, Soares Gabriela, Correia Cecília, Reis-Lima Margarida, Cirigliano Vincenzo, Santos Rosário

Abstract excerpt

BACKGROUND: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental...

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Share to Chromosomes, Human, X
Share to DNA Methylation

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

Share to Fragile X Mental Retardation Protein

Share to Fragile X Syndrome

Share to Oligonucleotide Array Sequence Analysis

Share to Paternal Inheritance

Share to Sequence Deletion

Share to X Chromosome Inactivation

Source

Open in PubMed Open full text

Identifiers

PMID: 29747568
DOI: 10.1186/s12881-018-0589-6
PMCID: PMC5946481

Genes

FMR1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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