An orange is high in this nutrient, known to decrease the risk for open neural tube defects
What is folic acid?
100
Process of cell division in somatic cells
What is mitosis?
100
Chromosome rearrangment involving two acrocentric chromsomes
What is a Robertsonian translocation?
100
Increased levels of this analyte are associated open neural tube defects
What is AFP?
200
carrier frequency of cystic fibrosis in Northern European Caucasians
What is ~1/25
200
This strawberry sign visualized on ultrasound increases the risk for this condition (see slide 9)
What is Trisomy 18?
200
Organelle that provides energy to the cell
What is the mitochondria?
200
Risk estimates based on cases actually observed rather than on genetic principles
What is empirical risk?
200
46, XX, t(21;21)
What is Down syndrome?
300
The chance a pregnancy is affected with sickle cell disease given the mother has trait and the father's trait status is unknown-- both parents are African American
What is ~1/40
300
On ultrasound, this fetal structure often resembles a banana in the presence of an open neural tube defect
What is the cerebellum?
300
small loss of genetic material on a chromosome often detectable by FISH or microarray
What is microdeletion?
300
occurence of a genetic disorder at earlier age of onset and/or at greater severity in successive generations
What is anticipation?
300
Low levels of this protein can be associated with Smith-Lemli-Opitz or Steriod Sulfatase Deficiency
What is uE3?
400
Number of CAG repeats associated with fully penetrant Huntington's Disease?
What is >40
400
An ultrasound marker suggesting an open neural tube defect in a fetus
What is a lemon sign?
400
Lissencephaly syndrome associated with microdeletion of chromosome 17p
What is Miller-Dieker?
400
presence of two or more different forms of mitochondrial DNA
What is heteroplasmy?
400
Deleterious mutations in this gene increase the risk for breast cancer, leukemia, sarcoma, and brain cancer
What is TP53?
500
The residual risk for a person of Caucasian ancestry to be a carrier for CF after a negative 23 mutation screen.
What is ~1/200
500
The medical term for a strawberry birthmark
What is hemangioma?
500
small single stranded ribonucleic acid that plays a role in gene expression through epigenetics
What is microRNA?
500
Chromosome breakage syndrome associated with aplastic anemia. Female carriers may be at increased risk for breast cancer
What is Fanconi Anemia?
500
Genetic condition associated with downward dislocated lens