Genetics

Question 1

Adult Polycystic Kidney Disease mode of inheritance?

Answer 1

Autosomal Dominant

Question 2

Adult Polycystic Kidney Disease happens on which gene and which chromosome

Answer 2

PKD1

Chromosome 16

Question 3

Prader Willi happens through which gene?

Answer 3

Paternal 15Q

Question 4

Angelman Syndrome happens through which gene

Answer 4

Maternal 15q

Question 5

What is Mendelian Inheritance?

Answer 5

Single gene disease on non sex chormosomes

Question 6

How many copies of an affected gene do you need to have to have an Autosomal Dominant condition?

Answer 6

Single copy of diseased gene

Question 7

How many copies of an affected gene do you need to have to have an autosomal recessive condition?

Answer 7

Two copies of disease gene

Question 8

How many copies of an affected gene do you need to be a carrier of an autosomal recessive condition?

Answer 8

One copy of diseased gene

Question 9

In autosomal recessive condition where both parents have 1 copy of diseased gene what is the chance of a child being affected by the disease?

Answer 9

1 in 4 (25%)

Question 10

In autosomal recessive condition where both parents have 1 copy of diseased gene what is the chance of a child being a carrier of disease?

Answer 10

2 in 4 (1 Abnormal, 1 Normal)

Question 11

In autosomal recessive condition where both parents have 1 copy of diseased gene what is the chance of a child being not affected by disease?

Answer 11

1 in 4 (25%)

Question 12

In autosomal dominant condition what is the chance of a child having the disease where 1 parent has disease and 1 parent does not?

Answer 12

2 in 4 (50%)

Question 13

In autosomal dominant condition what is the chance of a child not having the disease where 1 parent has disease and 1 parent does not?

Answer 13

2 in 4 (50%

Question 14

Autosomal Recessive

• Both parents unaffected
• 1 Sibling has condition
• 1 sibling does not have condition

Chance of sibling that does not have condition being carrier?

Answer 14

2 in 3

Because both parents will be carriers and the child does not have the condition which leaves three options that could be possible

Question 15

Name the cause of Angelman Syndrome (2)

Answer 15

Loss of function of UBE3A Gene
Deletion on Chromosome 15

Question 16

Name common feautres of Angelman Syndrome? (7)

Answer 16

Delayed Development and LD
Speech Issues
Fascination with water
Happy demeanor
Wide spaced teeth
Inappropriate laughter
Hand flapping

Question 17

Cause of Angelman Syndrome (2)

Answer 17

Loss of function of UBE3A Gene
and Deletion on Chromosome 15

Question 18

Name 8 autosomal dominant conditions

Answer 18

• Achondroplasia
  
  • Adult Polycystic Kidney Disease
  • Familal Alzheimers Disease
  • Familial Hypercholesterolaemia
  • Huntingtons Chorea
  • Marfan Syndrome
  • Neurofibromatosis Type I
• Von Willebrand Disease

Question 19

Name 8 autosomal dominant conditions

Answer 19

• Achondroplasia
  
  • Adult Polycystic Kidney Disease
  • Familal Alzheimers Disease
  • Familial Hypercholesterolaemia
  • Huntingtons Chorea
  • Marfan Syndrome
  • Neurofibromatosis Type I
• Von Willebrand Disease

Question 20

Name 5 common autosomal recessive haematology conditions?

Answer 20

Haemochromatosis
Phenylketonuria
Sickle Cell
Haemophilia A
Haemophilia B

Question 21

Name a common paediatric msk autosomal recessive condition?

Answer 21

Duchenne Muscular Dystrophy

Question 22

Name a common autosomal recessive respiratory condition?

Answer 22

Cystic Fibrosis

Question 23

name a common autosomal recessive gi condition?

Answer 23

Wilsons Disease

Question 24

What does Homozygous mean?

Answer 24

Both gene copies abnormal

Question 25

What does Heterozygous mean?

Answer 25

One gene copy abnormal

Question 26

How many pairs of chromosomes does an individual have?

Answer 26

23 (46 in total)

Question 27

How many sex chromosomes does have a female have?

Answer 27

Two X

Question 28

How many sex chromosomes does a male have?

Answer 28

One X and One Y

Question 29

What is the chromosome abnormality in Myeloid Leukaemia?

Answer 29

Translocation of philadelphia chromosome (9:22)

Question 30

What is the chromosome abnormality in Acute Promyelotic Leukaemia?

Answer 30

15:17

Question 31

Which gene causes Familial Adenomatous Polyposis?

Answer 31

APC Gene

Question 32

which gene causes Hereditary Retinoblastoma?

Answer 32

RB gene

Question 33

Cri Du Chat is what type of genetic condition?

Answer 33

Deletion disorder missing chromosome 5

Question 34

Charcot Marie Tooth is what type of genetic condition?

Answer 34

Duplication disorder on chromosome 17

Question 35

How does Charcot marie tooth present? (3)

Answer 35

Sensory Neuropathy Motor Neuropathy Pes Cavus (High Arch Foot)

Question 36

Patau is what trisome condition?

Answer 36

Trisomy 13

Question 37

Edwards is what Trisome condition?

Answer 37

Trisomy 18

Question 38

Downs is what trisome condition?

Answer 38

Trisomy 21

Question 39

How does Downs Syndrome typically present? (8)

Answer 39

Hypotonia Brachycephaly Short Neck Short Height Flat Face/Nose Prominent Epicanthic Folds (Eyes) Upward Sloping Palpebral Fissures Single Palmar Crease

Question 40

What is Brachycephaly?

Answer 40

Small Head/Flat Back

Question 41

Where can prominent epicanthic folds be found?

Answer 41

Eyes

Question 42

Name complications of Downs Syndrome? (7)

Answer 42

Learning Difficult Recurrent Otitis Media due to Eustachian tuBE ISSUES Visual Issues Hypothyrodism ASD/VSD Cardiac Leukaemia Dementia

Question 43

First line diagnostic test for Downs? at what week?

Answer 43

Combined Test (Ultrasound and Maternal Bloods: Beta HCG and PAPPA) at 11-14 Weeks

Question 44

What will Beta HCG and PAPPA tested at 11-14 weeks in downs show?

Answer 44

Increased Beta HCG Decreased PAPPA

Question 45

What test to measure neck in Downs?

Answer 45

Nuchal Transluency ?6mm

Question 46

What does the Triple Test in Downs at 14-20 weeks look at?

Answer 46

High Beta HCG Low Alpha Fetoprotein Low Serum Oestriol

Question 47

Quadruple Test at 14-20 weeks in Downs what does that look at?

Answer 47

Inhibin A

Question 48

What is Fragile X Syndrome?

Answer 48

Mutation in Fragile X Mental Retardation 1 Gene (FRM1) on X Chromosome

Question 49

Symptoms of Fragile X Syndrome? (8)

Answer 49

Intellectual Disability Long Narrow Face Large Ears Large Testicles after puberty Hypermobile Joints ADHD Seizures Autism

Question 50

Testing for BRCA1 and Huntingtons is what type of genetic test?

Answer 50

Predictive

Question 51

Huntingtons Disease has what type of mutation?

Answer 51

CAG Expression

Question 52

Kleinfelter's Syndrome affects what gender?

Answer 52

Male

Question 53

Kleinfelter's Syndrome is what kind of condition?

Answer 53

Additional X Chromosome in Males (47 xxy)

Question 54

Features of Kleinfelter's Syndrome (8)

Answer 54

Tall Wide Hips Gynaecomastia Weak Muscles Small Testicles Reduced Libido Infertiluty Subtle LD

Question 55

Treatment for Kleinfelter's Syndrome? (2)

Answer 55

Testosterone Injections Breast Reduction Surgery

Question 56

How is Marfans Inherited?

Answer 56

Autosomal Dominant

Question 57

What is Marfans

Answer 57

affects gene responsible for creating fibrillin which affects connective tissue

Question 58

Features of Marfans? (8)

Answer 58

Tall Long Neck Long Arms/Legs Long Fingers High Arch Palate Hypermobility Chest wall deformity Downward slope palpabrle fissures

Question 59

Associations with Marfans? (7)

Answer 59

Lens Dislocation Joint Dislocation Scoliosis Pneumothorax GOR Mitral Valve/Aortic Valve Prolapse with Regurg Aortic Aneurysm

Question 60

Duchenne Muscular Dystrophy is what type of condition?

Answer 60

X Linked

Question 61

Neurofibromatosis Type 1 is what type of condition?

Answer 61

Autosomal Dominant on 17Q Gene

Question 62

Features of Neurofibromatosis Type 2? (3)

Answer 62

Bilateral Acoustic Neuromas CNS and Spinal Tumours Cafe Au Lait Spots

Question 63

Myotonic Dystrophy is inherited how? (2)

Answer 63

Autosomal Dominant CTG Repeat

Question 64

Noonans is inherited how?

Answer 64

Autosomal Dominant

Question 65

Features of Noonans (9)

Answer 65

Short Broad Forehead Slope Eyes with Ptosis Hyperterolism (wide space between eyes) Prom Nasolabial Folds Low Set Ears Wide Nipples Webbed Neck Pul Valve Stenosis

Question 66

What is Prader Willi Syndrome

Answer 66

Loss of functional genes on proximal arm of chromosome 15 inherited from father

Question 67

Features of Prader Willi Syndrome? (9)

Answer 67

* Constant insatiable hunger > Obesity * Hypotonia * Mild-Moderate LD * Hypogonadism * Dysmorphic Features * Narrow Forehead * Almond shaped eyes * Strabismus Thin upper lip

Question 68

Lynch Syndrome increases risk of what two types of cancer in particular?

Answer 68

Endometrial and Colon

Question 69

Name four common trinucleotide repeat disorders?

Answer 69

Fragile X (CGG) Huntingtons (CAG) Myotonic Dystrophy (CTG) Frederich Ataxia (GAA)

Question 70

Tuberous Sclerosis presents with what triad?

Answer 70

Epilepsy, Learning Difficulty, Skin Lesions (Harmatomas)

Question 71

How is Tuberous Sclerosis inherited?

Answer 71

Autosomal Dominant

Question 72

How is Turners Inherited?

Answer 72

Single X Chromosome 45

Question 73

Features of Turners? (8)

Answer 73

Short Webbed Neck High Arch Palate Downward Slope Eyes with Ptosis Broad Chest/Wide Spaced Nipples Cubitus Valgus (Abnormal Elbow Angle) Underdeveloped Ovaries Late/Incomplete Puberty