Psych 1

Question 0

Huntington protein codes for what AA

Answer 0

Glutamate

Question 1

Huntington’s chromosome

Answer 1

4

Question 2

3 letter repeat for Huntington’s

Answer 2

CAG

Question 3

Huntington’s has death and increase in what NTs?

Answer 3

Death of ACh and GABA

Incr dopamine

Question 4

Another term for Fragile X

Answer 4

Martin-Bell syndrome

Question 5

3 letter repeat for fragile x

Answer 5

CGG

Question 6

First and second leading cause of mental retardation

Answer 6

1) Down syndrome

2) Fragile X

Question 7

Neurofibromatosis 1 chromosome

Answer 7

17

Question 8

NF1 gene product

Answer 8

Neurofibromin (Tumor suppressor of Ras)

Question 9

3 major physical symptoms of NF1

Answer 9

Neurofibromas
Cafe au lait spots
Lisch nodules

Question 10

Psych symptoms of NF1

Answer 10

Hyperactive
Impulsive
Distractible

Question 11

NF2 chromosome

Answer 11

22

Question 12

Trisomy 21 main cause (mechanism)

Answer 12

Nondisjunction in meiosis 1

Question 13

What is overproduced in Down syndrome

Answer 13

Beta amyloid

Question 14

Down syndrome has predisposition for _____ later in life

Answer 14

Dementia (Alzheimer’s type)

Question 15

Prader Willi genetic cause

Answer 15

Paternal deletion chromosome 15

Question 16

Prader Willi clinical features

Answer 16

Hyperphagia/obesity
Short
Small hands and feet
Rage

Question 17

Angelman genetic cause

Answer 17

Maternal deletion chromosome 15

Question 18

Clinical features of Angelman

Answer 18

Gait ataxia
Increased seizures
Happy puppet syndrome

Question 19

Klinefelter genetic cause

Answer 19

Extra chromosomes in males caused by advanced paternal age

Question 20

Clinical features of Klinefelter

Answer 20

Hypogonadism
Scant body hair
Learning difficulties
Antisocial
Delayed speech
Tall

Question 21

Turner syndrome genetic cause

Answer 21

Lose an X

Question 22

Clinical features of Turner

Answer 22

Short
Low ears
Webbed neck
Shield chest
Congenital heart defects
Ovarian streaks

Question 23

Lesch-Nyhan genetic cause

Answer 23

Long arm of X

Question 24

Genetic inheritance of Lesch-Nyhan

Answer 24

X linked recessive

Question 25

Molecular problem in Lesch-Nyhan

Answer 25

Lack of HPRT, enzyme for purine metabolism, leading to uric acid accumulation

Question 26

Tuberous sclerosis chromosome

Answer 26

9 and 16

Question 27

Tuberous sclerosis associated with what other conditions

Answer 27

Hamartomas (Benign CNS tumors) Kidney Heart Skin

Question 28

Genetic inheritance of Tuberous sclerosis

Answer 28

Autosomal dominant

Question 29

Clinical symptoms of tuberous sclerosis

Answer 29

Autistic symptoms Epilepsy MR Hyperactivity

Question 30

Tourette's chromosome

Answer 30

18

Question 31

Tourette's genetic inheritance

Answer 31

Autosomal dominant

Question 32

Coprolalia

Answer 32

Obscene words or phrases

Question 33

Palilalia

Answer 33

Repeating own words

Question 34

Echolalia

Answer 34

Repeating last heard words of others

Question 35

Rett's syndrome chromosome

Answer 35

X

Question 36

What syndrome is almost all females

Answer 36

Rett's

Question 37

What syndrome has a 3:1 guy:girl ratio?

Answer 37

Tourette's

Question 38

Clinical features of Rett's

Answer 38

Decline after 6 months - head growth - language skills - stereotyped hand movements

Question 39

Wilson's disease chromosome

Answer 39

13

Question 40

Molecular problem in Wilson's disease

Answer 40

Decreased copper transporting ATPase 2, so more copper in liver and other organs

Question 41

Genetic inheritance of Wilson's disease

Answer 41

Autosomal recessive

Question 42

Eye symptom of Wilson's diseases

Answer 42

Kayser-Fleischer rings

Question 43

Clinical features of Wilson's disease

Answer 43

Jaundice Gait disturbances Hallucinations Wing beating tremor

Question 44

Lab results in Wilson's disease

Answer 44

Decr serum ceruloplasmin | Incr urine copper

Question 45

Autism chromosomes

Answer 45

2,7,15,16

Question 46

Autism associated with what other syndromes

Answer 46

``` Tuberous sclerosis (chr16) Fragile x ```