Genetics

Question 1

All of the genetic conditions covered in the year 3 genetics teaching (excluding haemtological conditions) are autosomal dominant EXCEPT…

Answer 1

Fragile X
Digeorge
Cystic Fibrosis
Duchennes muscular dystrophy

Question 2

What is the inheritance pattern for fragile x?

Answer 2

x-linked dominant

Question 3

What is the inheritance pattern for cystic fibrosis?

Answer 3

Autosomal recessive

Question 4

What is the inheritance pattern for duchennes muscular dystrophy?

Answer 4

X-linked recessive

Question 5

What is the cardiac anomaly associated with downs syndrome?

Answer 5

VSD (Harsh, pancystolic)
ASD (Split S2)

Question 6

What is the cardiac anomaly associated with marfan’s syndrome?

Answer 6

Aortic dissection

Question 7

What is the cardiac anomaly associated with william’s syndrome?

Answer 7

Supra-valvular aortic stenosis

Question 8

What is the cardiac anomaly associated with Noonan’s syndrome?

Answer 8

Pulmonary stenosis

Question 9

What is the cardiac anomaly associated with Turner’s Syndrome?

Answer 9

Coarctation of the aorta

Question 10

What condition arises from trisomy 13?

Answer 10

Patau’s

Question 11

What condition arises from trisomy 18?

Answer 11

Edwards

Question 12

What condition arises from trisomy 21?

Answer 12

Downs

Question 13

What is the Turner’s Karyotype

Answer 13

45XO

Question 14

What is the kleinfelter’s karyotype?

Answer 14

47XXY

Question 15

What is the mutation associated with DiGeorge?

Answer 15

22q11

Question 16

What is the genetic mutation associated with myotonic dystrophy?

Answer 16

CTG repeat

Question 17

What is the genetic mutation associated with Huntington’s

Answer 17

CAG expansion

Question 18

What are the genes associated with Lynch Syndrome?

Answer 18

MLHL, MSH2, MSH6, PMS2, and EPCAM

Question 19

What is the genetic mutation associated with Prader Willi?

Answer 19

Paternal loss of imprinted genes on chromosome 15

Question 20

name the condition:
Males with this disorder may have larger than normal breasts, a lack of facial and body hair, a rounded body type, and small testicles.

Answer 20

Kleinfelter’s

Question 21

name the condition:

impaired sense of smell with a hormonal disorder that delays or prevents puberty.

Answer 21

Kallmanns

Question 22

Name the condition:

Excessive hunger
Learning difficulties and behavioural challenges

Answer 22

Prader-Willi

Question 23

Name the condition:

Associated with heart defects, cleft lip and learning difficulties. The severity of the condition varies. Some children can be severely ill and very occasionally may die from it, but many others may grow up without realising they have it.

Answer 23

DiGeorge

Question 24

Name the condition:

delayed development, problems with speech and balance, intellectual disability, and,

smile and laugh frequently, and have happy, excitable personalities.

Answer 24

Angelman

Question 25

Name the syndrome:

severely disrupts normal development
In many cases, results in miscarriage, stillbirth or the baby dying shortly after birth.

Answer 25

Patau’s

Question 26

Name the condition:

low birth weight and certain abnormal features. These include a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; and heart, lung, kidney, intestine, and stomach defects.
In many cases, results in miscarriage, stillbirth or the baby dying shortly after birth.

Answer 26

Edwards

Question 27

Name the condition:

Single palmar crease, medial epicanthal folds, low set ears and flat nose

Answer 27

Downs

Question 28

Name the condition:

Elfin features & widely spaced teeth
Learning disability

Answer 28

William’s Syndrome