ATI- SPH/MWD-
Goedgekeurde Plan
van Aanpak voor HBO
Scriptie -
rouwondersteuning
verstandelijk
beperkten 2024/2025
The most common mechanism by which complete Trisomy 21 arises: - ANSWER ✓✓✓Maternal
meiotic nondisjunction
Duchenne and Becker muscular dystrophies result from mutations in the gene for dystrophin.
, The diseases differ in onset and severity, but not in inheritance pattern. They should therefore
be considered: - ANSWER ✓✓✓Allelic diseases-- this is allelic heterogeneity
What gives most accurate info on fetal aneuploidy @ 12 weeks w/out placing pregnancy at risk?
- ANSWER ✓✓✓Non-invastive prenatal testing (e.g. blood test)
If a patient has a chromosomal translocation involving homologous chromosomes, e.g. 21;21
translocation, what is risk of having offspring with unbalanced chroms? - ANSWER ✓✓✓100%
Which chromosomal aneuploidy does NOT correlate with advancing age? - ANSWER
✓✓✓Turner Syndrome (45,x)
What is Trisomy 13 called? - ANSWER ✓✓✓Patau syndrome
What is Trisomy 18 called? - ANSWER ✓✓✓Edwards Syndrome
A dominant pattern is typically exhibited when the normal gene product: - ANSWER
✓✓✓Functions as a structural protein
The quickest and most accurate laboratory testing presently available to distinguish between
trisomic and translocation forms of Down syndrome or Patau syndrome is: - ANSWER
✓✓✓Chromosomal (karyotype) analysis
What is earliest and most accurate test for FXS? - ANSWER ✓✓✓Chorionic villus sampling (9-
14 wks)
About 70% of minor malformations involve the: - ANSWER ✓✓✓Head and Hands-- Most
complicated body parts = most likely to deform
Oncogenes - ANSWER ✓✓✓Can result from specific chromosome translocations, e.g. 9;22
Goedgekeurde Plan
van Aanpak voor HBO
Scriptie -
rouwondersteuning
verstandelijk
beperkten 2024/2025
The most common mechanism by which complete Trisomy 21 arises: - ANSWER ✓✓✓Maternal
meiotic nondisjunction
Duchenne and Becker muscular dystrophies result from mutations in the gene for dystrophin.
, The diseases differ in onset and severity, but not in inheritance pattern. They should therefore
be considered: - ANSWER ✓✓✓Allelic diseases-- this is allelic heterogeneity
What gives most accurate info on fetal aneuploidy @ 12 weeks w/out placing pregnancy at risk?
- ANSWER ✓✓✓Non-invastive prenatal testing (e.g. blood test)
If a patient has a chromosomal translocation involving homologous chromosomes, e.g. 21;21
translocation, what is risk of having offspring with unbalanced chroms? - ANSWER ✓✓✓100%
Which chromosomal aneuploidy does NOT correlate with advancing age? - ANSWER
✓✓✓Turner Syndrome (45,x)
What is Trisomy 13 called? - ANSWER ✓✓✓Patau syndrome
What is Trisomy 18 called? - ANSWER ✓✓✓Edwards Syndrome
A dominant pattern is typically exhibited when the normal gene product: - ANSWER
✓✓✓Functions as a structural protein
The quickest and most accurate laboratory testing presently available to distinguish between
trisomic and translocation forms of Down syndrome or Patau syndrome is: - ANSWER
✓✓✓Chromosomal (karyotype) analysis
What is earliest and most accurate test for FXS? - ANSWER ✓✓✓Chorionic villus sampling (9-
14 wks)
About 70% of minor malformations involve the: - ANSWER ✓✓✓Head and Hands-- Most
complicated body parts = most likely to deform
Oncogenes - ANSWER ✓✓✓Can result from specific chromosome translocations, e.g. 9;22
