###### Created: 2023-06-18 16:13
###### Areas & Topics: #medicine
###### Note Type: #permanent
###### Connected to: [[Down's Syndrome]] [[Rett Syndrome]] [[Autism Spectrum Disorder (ASD)]]
- Fragile X Syndrome is a genetic disorder caused by a trinucleotide repeat mutation of the FMR1 gene (specifically CGG).
- This gene is responsible for the production of the FRMP protein which is required in brain development.
- This means that individuals with Fragile X usually present with developmental delays and learning disabilities as a result of the condition.
- It is an X-linked dominant condition, meaning it is typically less severe in females (as they have another X chromosome to compensate).
- Fragile X is the most common monogenic cause of [[Autism Spectrum Disorder (ASD)]].
### Clinical Features
- Developmental delays
- Psychomotor delays
- Intellectual disabilities
- Long face with prominent ears and flat feet
- Macro-orchidism (abnormally large testes)
### Diagnosis
- Antenatal Testing (Amniocentesis or Chronic Villus Sampling)
- Genetic Testing (restriction endonuclease digestion and Southern blot analysis)
![[Fragile_X_Syndrome©SPL.jpg]]
### Resources
https://www.ncbi.nlm.nih.gov/books/NBK459243/