Auditory/Visual

Question 1

2 Qualifications for “Syndrome”

Answer 1

> 1 finding

Findings need to be caused by shared factor

Question 2

Pendred Syndrome (2)

Answer 2

Most common syndrome of deafness

With Goiter

Question 3

Usher Syndrome (2)

Answer 3

2nd most common syndrome of deafness

Also presents w/ RP

Question 4

Most Common Deafness Inheritance

Answer 4

Autosomal Recessive

Question 5

Waardenburg Syndrome (2)

Answer 5

Deafness from error in neural crest cell migration

Discolored eyes

Question 6

Alport Syndrome (3)

Answer 6

Deafness, renal disease, and ocular problems

Question 7

Complete Labyrinthine Aplasia (3 symptoms, cause)

Answer 7

Microtia, microdontia, and profound deafness from complete lack of inner ear structures
Missense change in FGF3 gene

Question 8

Aminoglycoside

Answer 8

Antibiotic that can induce deafness from mt rRNA mut making it more similar to bacterial rRNA

Question 9

GJB2

Answer 9

Most common nonsyndromic deafness gene in caucasians

Question 10

Dehydrodolichol Diphosphate Synthase (DHDDS)

Answer 10

Enzyme in N-linked glycosylation where mutant causes RP

Question 11

ID Definition

Answer 11

Significant limitations in 2+ areas of adaptive behavior

Question 12

1 Cause of ID

Answer 12

Monogenic Disorder

Question 13

3 Tiers of Repeats for Fragile X

Answer 13

200: Full mutation

Question 14

4 Clinical Symptoms of Fragile X Carriers

Answer 14

Primary ovarian insufficiency (POI)
Fragile X-Associated Tremor Ataxia syndrome (FXTAS)
Anxiety
ADHD

Question 15

AGG Repeats

Answer 15

Interrupt CGG repeats, can reduce risk of expansion for Fragile X

Question 16

Connective Tissue Dysplasia

Answer 16

Common feature of fragile X, hyper-extensible joints

Question 17

Diagnostic Tests for Fragile X

Answer 17

PCR then Southern Blot, NOT microarray

Question 18

Fragile X Pathophysiology

Answer 18

(When methylated, lose) FMRP is an mRNA binding prot, so lose regulation of production of multiple prots