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...
Topics
- Chromosomes, Human, X
- DNA Methylation
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Testing
- Genomics
- Humans
- Infant
- Mutation
- Oligonucleotide Array Sequence Analysis
- Paternal Inheritance