Ontology highlight
ABSTRACT:
SUBMITTER: Goncalves TF
PROVIDER: S-EPMC4956488 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Expert review of molecular diagnostics 20160209 4
<h4>Objective</h4>Almost all patients with Fragile X Syndrome (FXS) exhibit a CGG repeat expansion (full mutation) in the Fragile Mental Retardation 1 gene (FMR1). Here, the authors report five unrelated males with FXS harboring a somatic full mutation/deletion mosaicism.<h4>Methods</h4>Mutational profiles were only elucidated by using a combination of molecular approaches (CGG-based PCR, Sanger sequencing, MS-MLPA, Southern blot and mPCR).<h4>Results</h4>Four patients exhibited small deletions ...[more]