Diagnosis: Fragile X-associated tremor/ataxia syndrome (FXTAS) resulting from a premutation (CGG repeat) expansion of the FMR1 gene. Management: Explanation of the genetic ramifications of ...

ucr.edu Background: Fragile X syndrome (FXS) is the most common single gene inherited form of mental retardation, with behaviours at the extreme of the autistic spectrum. Subjects with FXS and fragile ...

For example, mutations in the FMR1 gene on the X chromosome cause fragile X syndrome, a condition associated with intellectual disability. Turner syndrome, a condition where females are born with only ...

Klinefelter syndrome is a genetic condition that affects only males. Here's what you should know about the causes, symptoms, and treatment options for the condition. Klinefelter syndrome is a genetic ...

There is strong evidence for a genetic basis of autism ... PTEN and CNTNAP2. Fragile X (fraX) and Rett syndromes capture many aspects of the autism spectrum disorders (ASD) phenotype and represent ...

Silencing might also explain, in part, why genetic twins are not phenotypically identical. In addition, epigenetics is important for X-chromosome inactivation in female mammals, which is necessary ...

Rare diseases (RDs), more than 80% of which have a genetic origin, collectively affect approximately 350 million people worldwide. Progress in next-generation sequencing technology has both greatly ...

Turner syndrome is a rare genetic disorder found in some women and ... when a female is missing certain genes normally on the X chromosome. (Females have two X chromosomes, while males have ...

In the present review, we will first summarize the hippocampal involvement in individuals with ASD. We will then provide an overview of hippocampal structural and functional abnormalities in genetic, ...