Misc. 2

Question 1

association

Answer 1

a group of anomalies that occur more frequently together than would be expected by chance alone but that lack a predictable pattern of recognition or suspected unified underlying etiology

Question 2

sequence

Answer 2

a group of related anomalies that generally stem from a single initial major anomaly that affects development of other tissues or structures

Question 3

field defect

Answer 3

may be used interchangeably with “sequence”

Question 4

deformation

Answer 4

caused by an abnormal EXTERNAL force acting on the fetus during in utero development

Question 5

disruption

Answer 5

normal growth of a fetal structure is halted prematurely

Question 6

malformation

Answer 6

fetal growth/development did not proceed normally because of underlying genetic, epigenetic, or environmental factors that altered development

Question 7

dysplasia

Answer 7

intrinsic cellular architecture of a tissue is not normally maintained throughout growth/development

Question 8

analytical validity

Answer 8

ability of a test to accurately measure a given analyte; based on 5 factors

Question 9

analytic accuracy

Answer 9

degree of agreement of the test result with the “true value”

Question 10

analytic precision

Answer 10

agreement between measurements, or “reproducibility”

Question 11

analytic sensitivity

Answer 11

can the test detect a very low level, such as 1%?

Question 12

analytic specificity

Answer 12

ability to detect only the analyte of interest; or the proportion of negative results

Question 13

analytical predictive value

Answer 13

percentage of all positive results that are true positives

Question 14

clinical validity

Answer 14

ability of a test to predict the presence of the associated disorder or phenotype; percentage of patients who are correctly classified as having the disease or not

Question 15

clinical sensitivity

Answer 15

probability that a person with disease will have a positive test result

Question 16

clinical specificity

Answer 16

probability that a person without disease will have a negative test result

Question 17

clinical utility

Answer 17

ability of a test to affect positive outcomes

Question 18

clinical positive predictive value

Answer 18

probability that a person has the disease, given test is positive

Question 19

clinical negative predictive value

Answer 19

probability that a person dose not have the disease, given test is negative

Question 20

What is the typical recurrence risk for an imprinting disorder?

Answer 20

1%

Question 21

What is the best way to estimate carrier frequency of an autosomal recessive disease when given the incidence?

Answer 21

square root of the incidence times 2

Question 22

What proportion of twins are monozygotic and what proportion are dizygotic?

Answer 22

1/3 mono

2/3 di

Question 23

In Bayes’ Theorem, what are the 4 rows of the calculation table?

Answer 23

• prior
• conditional
• joint
• post

Question 24

What proportion of same sex twins are MZ vs. DZ?

Answer 24

half

Question 25

Which disorder(s) show(s) anticipation in paternal transmission?

Answer 25

Huntington’s disease

Question 26

Which disorder(s) show(s) anticipation in maternal transmission?

Answer 26

• Fragile X

- myotonic dystrophy

Question 27

What is “F”?

Answer 27

• coefficient of inbreeding
• probability that a child of a consanguineous couple will be homozygous for one specific gene derived from a common ancestor

Question 28

What is “R”?

Answer 28

• coefficient of relationship

- -proportion of genes shared by individuals who are related

Question 29

In relation to “F” and “R” what is the chance that a child of a consanguineous couple will be affected with an autosomal recessive disease which is in the family?

Answer 29

half of “F”

Question 30

What is “R” for siblings? Half-siblings? First cousins?

Answer 30

1/2
1/4
1/8

Question 31

Allelic heterogeneity

Answer 31

series of different mutations at a single locus

Question 32

Locus heterogeneity

Answer 32

mutations at different loci result in similar phenotype

Question 33

Which mode of inheritance has the highest new-mutation rate?

Answer 33

X-linked