MCBG 17 + 18

Question 1

ONE INCORRECT option. An individual with a 47,XXY karyotype will…
A) look normal at birth.
B) be infertile.
C) probably have affected siblings.
D) have male external genitalia.
(think properly through the answers)

Answer 1

C) probably have affected siblings

Question 2

ONE INCORRECT option. Non-invasive prenatal testing (NIPT) can currently be used to look for the following:
A) Chromosome translocations
B) Downs syndrome
C) Fetal sex
D) Single gene disorders

Answer 2

B) Downs syndrome

Question 3

45,XY,der(21;21)

What does the der mean?

Answer 3

Robertsons translocation

Question 4

Symptoms of sickle cell anemia. 3

Answer 4

Anemia (tiredness shortness of breath)
Severe pain
Sudden death

Question 5

What is huntingtons disease?

Answer 5

Its a autosomal dominant disease.

Neurodegenerative disease of CNS

Causes by STR (CAG) repetitions

Question 6

Huntington’s. How does the STR length effect the onset of disease?

Answer 6

Longer the STRs the sooner the disease hits

Question 7

What can cause genetic Mosaic? 3

Answer 7

1. chromosome non-disjunction,
2. anaphase lag (slow chromosome doesnt make it to the bus)
3. endoreplication

Question 8

How many genes do mitochondria have?

Answer 8

37

Question 9

Symptoms of mitochondrial disease. 3

Answer 9

Muscle weakness
Visual problems
Hearing problems
heart disease, liver disease, kidney disease, neurological disease (basically every system disease)

Question 10

Symptoms of mitochondrial disease can range from mild to severe in
families with a specific mutation in one mitochondrial-encoded gene. How
can this be explained?

Answer 10

The presentation of affected mitochondria can be different in each cell. Some will have many affected mitochondria and others less