Fragile X syndrome Flashcards
1
Q
mutation of
A
FMR1 (fragile X mental retardation 1) gene
on X chromosome
2
Q
FMR1 gene
A
codes for fragile X mental retardation protein
plays a role in congenital development in brain
3
Q
inheritance
A
x linked
males always affected
females can vary how much affected
4
Q
featureds
A
delay in speech and language developemetnt intellectual disability long narrow face large ears large testicles hypermobile joints ADHD autism seizures
5
Q
potential complication
A
mitral valve prolapse
