Prep | 237
Questions with
100% Correct
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
, NETA 2 Test
Prep | 237
Questions with
100% Correct
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 BRCA1
and BRCA2 are two tumor suppressor genes that predispose to
breast cancer.The most common mechanism by which complete
Trisomy 21 arises: - ANSWER ✓✓✓Maternal meiotic
nondisjunction 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
Together they account for about what percentage of breast cancer?
- ANSWER ✓✓✓5% First cousins who have kids are at an
increased risk to have children affected with: - ANSWER
✓✓✓Sex-linked disorders Autosomal dominant transmission shows