Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

3rd Year Medical Specialties > Genetics - Multi-system Disease > Flashcards

Genetics - Multi-system Disease Flashcards

You may prefer our related Brainscape-certified flashcards:
USMLE® Step 1 flashcards
1
Q

Multi-system disorders are caused by what?

A

Germ-line genetic variations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What modes of inheritance cause Multi-system disorders?

A

Chromosomal
Single gene disorders
Multifactorial

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the common problems seen in multi-system disease?

A

Variable expression within as well as between families
Present to a large variety of specialists
Easy to miss FH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What type of inheritance causes Neurofibromatosis Type 1?

A

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How common is Neurofibromatosis Type 1?

A

1/2500-3500

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

How is Neurofibromatosis Type 1 diagnosed?

A 
2+ of:
Cafe au lait spots (6+)
Neurofibromas (2+)
Axillary freckling
Lisch nodules 
Optic glioma
Thinning of long bone cortex
Family history
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the other symptoms of Neurofibromatosis Type 1?

A 
Macrocephaly
Short stature 
Noonan-look
Learning difficulties
Epilepsy
Scoliosis
Pseudoarthritis of tibia
HTN
Neoplasia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How is Neurofibromatosis Type 1 managed?

A 
Annual review of children at risk and individuals with diagnosis of:
Blood pressure
Spine (scoliosis)
Tibia (angulation)
Educational assessment
Visual acuity/fields
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What gene causes Neurofibromatosis Type 1?

A

Variable expression of tumour suppressor gene 17q (usually paternal)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

How does Neurofibromatosis Type 2 present?

A

Acoustic (bilateral) neuromas
CNS/spinal tumours
Few CAL spots

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Where is the NF2 gene located?

A

Chromosome 22

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is Tuberous Sclerosis?

A

Triad of Epilepsy, Skin lesions and Learning difficulty
Autosomal dominant
Hamartomas in different organs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the genetics of tuberous sclerosis?

A

Autosomal dominant with full penetrance

TSC1+2 genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the clinical features of Tuberous Sclerosis?

A 
Variable expression
Learning difficulty (autism)
Seizures (infantile, myoclonic)
Skin lesions 
Kidney cysts 
Phakomas in eye
Rhabdomyomas in heart
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What skin lesions are seen in Tuberous sclerosis?

A 
Angiofibromas
Depigmented macules
Fibrous plaques on forehead
Shagreen patches
Subungual fibromas
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

How are at-risk relatives managed?

A 
Clinical examination
Cranial MR
Renal ultrasound
Echocardiogram
Genetic counselling
17
Q

What is Myotonic dystrophy?

A

Autosomal dominant CTG repeat, worse in each generation

18
Q

Clinical features of Myotonic dystophy?

A 
Bilateral late-onset cataract
Muscle weakness, stiffness, myotonia
Low motivation
Diabetes
Bowel issues 
Heart block
Post-anaesthetic death
Learning difficulty

3rd Year Medical Specialties (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions