Flashcards in Auditory/Visual Deck (18)
1
2 Qualifications for "Syndrome"
>1 finding
Findings need to be caused by shared factor
2
Pendred Syndrome (2)
Most common syndrome of deafness
With Goiter
3
Usher Syndrome (2)
2nd most common syndrome of deafness
Also presents w/ RP
4
Most Common Deafness Inheritance
Autosomal Recessive
5
Waardenburg Syndrome (2)
Deafness from error in neural crest cell migration
Discolored eyes
6
Alport Syndrome (3)
Deafness, renal disease, and ocular problems
7
Complete Labyrinthine Aplasia (3 symptoms, cause)
Microtia, microdontia, and profound deafness from complete lack of inner ear structures
Missense change in FGF3 gene
8
Aminoglycoside
Antibiotic that can induce deafness from mt rRNA mut making it more similar to bacterial rRNA
9
GJB2
Most common nonsyndromic deafness gene in caucasians
10
Dehydrodolichol Diphosphate Synthase (DHDDS)
Enzyme in N-linked glycosylation where mutant causes RP
11
ID Definition
Significant limitations in 2+ areas of adaptive behavior
12
#1 Cause of ID
Monogenic Disorder
13
3 Tiers of Repeats for Fragile X
200: Full mutation
14
4 Clinical Symptoms of Fragile X Carriers
Primary ovarian insufficiency (POI)
Fragile X-Associated Tremor Ataxia syndrome (FXTAS)
Anxiety
ADHD
15
AGG Repeats
Interrupt CGG repeats, can reduce risk of expansion for Fragile X
16
Connective Tissue Dysplasia
Common feature of fragile X, hyper-extensible joints
17
Diagnostic Tests for Fragile X
PCR then Southern Blot, NOT microarray
18