Title: Physeo Anki Decks / 04 - Biochemistry / 04 - Genetics / Section 09.3 - Fragile X Syndrome

Q: [...] occurs due to build up of [repeat]
A: Fragile X Syndrome; CGG repeats
Extra: Champion Gennady Golovkin banner = CGD repeats

Q: Clinical features of Fragile X Syndrome include:
1.) [characteristic jaw]
2.) Large everted ears
3.) Enlarged testicles
4.) Mitral valve prolapse
A: Long prominent jaw
Extra: Unhinged jaw from knockout punch = Long prominent jaw

Q: Clinical features of Fragile X Syndrome include:
1.) Long prominent jaw
2.) [characteristic ears]
3.) Enlarged testicles
4.) Mitral valve prolapse
A: Large everted ears
Extra: Bouncer getting ears pulled up = Large everted ears

Q: Clinical features of Fragile X Syndrome include:
1.) Long prominent jaw
2.) Large everted ears
3.) [small or enlarged testicles]
4.) Mitral valve prolapse
A: Enlarged testicles
Extra: Punching bag shaped like testicles = Enlarged testicles

Q: Clinical features of Fragile X Syndrome include:
1.) Long prominent jaw
2.) Large everted ears
3.) Enlarged testicles
4.) [valve pathology]
A: Mitral valve prolapse
Extra: Ringside girl displaying MVP belt = Mitral valve prolapse

Q: Fragile X Syndrome is due to the [acetylation or methylation] of the [gene], leading to inactivation
A: methylation; FMR1 gene
Extra: Angry farmer bound by gaurds = FMR1 gene hypermethylated and blocked