mendelian

Question 1

type of inheritance of achondroplasia

Answer 1

dominant inheritance

Question 2

Achondroplasia

Answer 2

most common skeletal dysplasia

Question 3

Male to male transmission is observed

Answer 3

dominant inheritance

Question 4

features of a disorder vary between affected individuals, even in he same family

Answer 4

variable expressivity

Question 5

Marfan syndrome is an example of variable ________

Answer 5

expressivity

Question 6

what is marfan syndrome

Answer 6

systemic disorder of connective tissue

Question 7

common characteristics of marfan

Answer 7

bone overgrowth, joint laxity, cardiovascular issues (dilated aorta)

Question 8

not all individuals with a mutation have phenotypic effects

Answer 8

incomplete penetrance

Question 9

example of incomplete penetrance

Answer 9

BRCA gene mutations

Question 10

new gene mutations can occur and are often found at “ hot spot” in the genome

Answer 10

New (de novo)

Question 11

80% cases are de novo

Answer 11

Achondroplasia

Question 12

example of recessive inheritance

Answer 12

cystic fibrosis

Question 13

what is cystic fribosis

Answer 13

multisystem disease, primarily involving pulmonary and digestive systems

Question 14

1/25 Caucasians is a carrier

Answer 14

cystic fibrosis

Question 15

usually only one generation is affected

Answer 15

autosomal recessive

Question 16

less clinical variability than autosomal disorders

Answer 16

recessive inheritance

Question 17

Sickle Cell Anemia has an

Answer 17

ethnic predisposition,

Question 18

1/8 african americans are carriers

Answer 18

sickle cell anemia

Question 19

sickle cell anemia is

Answer 19

characterized by intermittent pain crises and organ damage (due to vaso-occlusion) and chronic hemolytic anemia

Question 20

Hemophilia occurs

Answer 20

internally, inot joints or muscles

Question 21

bleeding disorder caused by deficiency in Factor VIII or Factor IX

Answer 21

hemophilia

Question 22

male to male transmission is not observed

Answer 22

x-linked

Question 23

“carrier” females may show mild expression of the trait

Answer 23

x-linked recessive

Question 24

lyonization

Answer 24

x-inactivation

Question 25

skewed X-inactivation may lead to ________ carriers

Answer 25

symptomatic

Question 26

symptomatic females tend to be less severely affected than males due to skewed x-inactivation

Answer 26

x-linked recessive x inactivation

Question 27

example of an x-inactivation affecting less in females

Answer 27

duchenne muscular dystrophy

Question 28

Duchenne Muscular Dystrophy

Answer 28

progressive disease of the skeletal muscle results in delayed motor milestones

Question 29

X-linked dominant inheritance

Answer 29

Incontinentia Pigmenti

Question 30

incontinentia Pigmenti

Answer 30

disorder of the skin, hair, teeth, nails, eyes and central nervous system

Question 31

_____ more likely than _______ to be affected in x- linked dominant

Answer 31

females are much more likely than males to be affected

Question 32

all daughters of an affected male are affected

Answer 32

x-linked dominant

Question 33

Major cause of mobility and mortality of cystic fibrosis

Answer 33

Pulmonary disease

Question 34

Median life expectancy of cystic fibrosis

Answer 34

36.5 years

Question 35

Two mutated gene copies are necessary for | expression of trait

Answer 35

Autosomal Recessive Inheritance

Question 36

Males and females are (more/equally) likely to be affected in autosomal recessive inheritance

Answer 36

Equally

Question 37

Ethnic predisposition may be noted

Answer 37

Autosomal Recessive Inheritance

Question 38

Median life expectancy for those with sickle cell anemia

Answer 38

42-48 years

Question 39

Life expectancy reduced | by ___ years due to hemophilia

Answer 39

10 years

Question 40

Males are much more likely than females to | be affected

Answer 40

X-Linked Recessive Inheritance

Question 41

All daughters of an affected male are carriers

Answer 41

X-Linked Recessive Inheritance

Question 42

Due to Duchenne syndrome Dilated cardiomyopathy | typically occurs around ___ years

Answer 42

>18 years

Question 43

Life expectancy due to Duchenne

Answer 43

~27

Question 44

Females may be affected by an X-linked Recessive Disorder in a few rare scenarios

Answer 44

– She has a 45,X karyotype – She has an X chromosome rearrangement which results in skewed X-inactivation – She has an affected father and carrier mother (rare) – Disorder is genetically heterogeneous (the condition may have non-X-linked recessive cause)

Question 45

More physical symptoms from incontinentia pigment

Answer 45

Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed

Question 46

Male to male transmission is/is not observed in X-linked dominant diseases

Answer 46

is not