High yield questions Flashcards
1
Q
NF2 cataract type
A
cortical wedge cataract
Posterior subcapsular lenticular
2
Q
Age complete pentrance NF2
A
30
3
Q
Cysts in TSC
A
Contiguous gene del 16p13.3 (TSC2)
Minor crtieria of TSC
4
Q
TSC1 /TSC2 coding for what proteins
A
TSC1 Hamartin
TSC 2 Tuberin (most common)
5
Q
Treatment of TSC
A
Rapamycin (mTOR inhibitor)
6
Q
Indications for treatment for TSC (look up)
A
look uo
7
Q
Minor criteria TSC
A
- “Confetti” skin lesions (numerous 1- to 3-mm hypopigmented macules scattered over regions of the body such as the arms and legs)
- Dental enamel pits (>3)
- Intraoral fibromas (≥2)
- Multiple renal cysts
- Nonrenal hamartomas
- Retinal achromic patch
8
Q
Major criteria TSC
A
Angiofibromas (≥3) or fibrous cephalic plaque
- Cardiac rhabdomyoma
- Cortical dysplasias, including tubers and cerebral white matter migration lines
- Hypomelanotic macules (3 to >5 mm in diameter)
- *Lymphangioleiomyomatosis (LAM)
- Multiple retinal nodular hamartomas
- *Renal angiomyolipoma
- Shagreen patch
- Subependymal giant cell astrocytoma (SEGA)
- Subependymal nodules (SENs)
- Ungual fibromas (≥2)
9
Q
% Autism caused by 16p11.2
% of 16p11.2 have autism
A
0.5%-1% of Autism
20%
10
Q
RR sib risk Autism
A
10-15%
11
Q
Autism chromosomal
A
5-10%
12
Q
Genes for autism (check notes)
A
-
13
Q
False positive rate
A
1-specificity
14
Q
Define heritability
A
Fraction of phenotype due to genotype
15
Q
MLD imaging pattern and enzyme
A
Tiger stripe & Arysulfatase A
