Genetics

Question 1

Define aneuploidy

Answer 1

Numerical abnormality with more or fewer chromosomes

Question 2

Define deletion

Answer 2

When part of a chromosome is missing or part of the DNA is missing

Question 3

Define inversion

Answer 3

A chromosome breaks and the piece of it turns and reattaches itself

Question 4

Define ring chromosome

Answer 4

Where the ends are attached to itself and form a ring

Question 5

Define translocation

Answer 5

A chromosome segment moves from one location to another, can happen within the same chromosome or move to another

Question 6

Define mosaicism

Answer 6

2 or more sets of chromosomes have different genetic material.

Question 7

Define trisomy

Answer 7

The presence of an extra chromosome

Question 8

Describe combined screening

Question 9

Describe quadruple screening

Question 10

Describe NIPT

Question 11

Define sickle cell

Answer 11

Autosomal recessive
Sickle shaped rather than biconcave
Easier for them to Clemons together causing them to get stuck in small blood vessel.
Causing an inflammatory response
Causes anaemia, infections and severe pain (a crisis)

Question 12

Describe Thalassaemia

Answer 12

RBCs produce no or little amounts of haemoglobin
Causes severe anaemia and requires frequent blood transfusions

Question 13

Describe the screening process for SCD and thalassaemia

Question 14

Describe the diagnostic testing for SCD and Thalassemia

Question 15

Define screening neural tube defects

Answer 15

The neural tube develops into the spinal cord and brain and spine
With a defect the spinal cord does not fuse
Multifactorial condition