Lecture 9

Question 1

What are the most common forms of aneuploidy?

Answer 1

Trisomy 21, 13, 18. then X linked ones

Question 2

What is FISH?

Answer 2

Fluorescent In Situ Hybridisation - useful technique for picking up small deletions and translocations

Question 3

What are microarrays?

Answer 3

A test where each spot corresponds to a specific moped region of the genome.

Question 4

Inheritance of DMD?

Answer 4

Duchenne muscular Dystrophy - X-linked

Question 5

What is amniocentesis?

Answer 5

Extraction of amniotic fluid, risk of miscarriage and takes time for different disorders to come back

Question 6

What is CVS?

Answer 6

Chorion Villus Sampling - extraction of Chorion cells

Question 7

What is NIPT?

Answer 7

Non-Invasive Prenatal Testing - cell free fetal DNA in maternal circulation

Question 8

What is BRCA1 and BRCA2

Answer 8

Autosomal dominant, males and females carry the gene, hah risk for breast and ovarian cancer and males increases rick of prostate cancer.

Question 9

What are some ways to prevent BRCA 1 + 2

Answer 9

Masectomy and bilateral sapling oophorectomy