Fragile X Syndrome Flashcards
What is the genetic abnormality responsible for Fragile X Syndrome?
Fragile X Syndrome is caused by a trinucleotide repeat expansion (CGG) in the FMR1 gene on the X chromosome.
What is the molecular mechanism by which the FMR1 mutation leads to Fragile X Syndrome?
The CGG repeat expansion in the FMR1 gene leads to hypermethylation, reducing FMR1 gene expression and causing Fragile X Syndrome.
What are the clinical features of Fragile X Syndrome in infants and neonates?
In neonates and infants, Fragile X Syndrome commonly presents with macrocephaly, hypotonia, hyperflexible joints (particularly at the wrists and fingers), and developmental delays, including motor and speech delays.
These features may be subtle but are critical for early recognition.
What are the physical features commonly associated with Fragile X Syndrome in males?
Physical features include a long face, prominent forehead, large ears, macrocephaly, and macro-orchidism (enlarged gonads).
what cardiovascular issue is common with fragile X syndrome?
Mitral valve prolapse.
What are the developmental and behavioral abnormalities seen in Fragile X Syndrome?
Developmental delays include speech and motor delays, intellectual disability (ranging from mild to severe), and behavioral abnormalities such as ADHD and stereotypic movements.
They are also known to self-injure.
How does Fragile X Syndrome present differently in females compared to males?
Females can be asymptomatic or present with mild intellectual disability, as they have one normal X chromosome compensating for the mutated one.
How is fragile X syndrome diagnosed?
Clinical presentation with genetic analysis.
The mutated chromosome can be seen on karyotype.
What are the management strategies for Fragile X Syndrome?
Management includes multidisciplinary care with behavioral and cognitive therapies to address developmental and behavioral challenges.
What is the prognosis for individuals diagnosed with Fragile X Syndrome?
Individuals with Fragile X Syndrome have a normal life expectancy with appropriate supportive care.
