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

ABSTRACT: 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 disabilities. CASE PRESENTATION:We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history. FMR1 mutation screening revealed a methylated full mutation and a normal but inactive FMR1 allele, which led to further investigation. Complete skewing of X-chromosome inactivation towards the paternal

SUBMITTER: Jorge P 

PROVIDER: S-EPMC5946481 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature