Pathology - Genetics

Front 1

Mutations that arise in germ cells (can/cannot) give rise to inherited diseases?

Mutations that arise in somatic cells (can/cannot) cause hereditary disease

Back 1

CAN

CANNOT

Front 2

Which disorder is primarily associated with defects in receptor proteins?

Back 2

autosomal dominant

Front 3

Which disorder is primarily associated with defects in enzymes?

Back 3

autosomal recessive

Front 4

(Dominant/Recessive) diseases are expressed in heterozygous.

(Dominant/Recessive) diseases are expressed as homozygous.

Back 4

Dominant

Recessive

Front 5

X-linked disorders are (dominant/recessive)

Back 5

Recessive

Front 6

Is Huntington disease dominant or recessive?
What system does it affect?

Back 6

Dominant

Nervous system

Front 7

Is Neurofibromatosis dominant or recessive?
What system does it affect?

Back 7

Dominant

Nervous system

Front 8

Is Marfan syndrom dominant or recessive?
What system does it affect?

Back 8

Dominant

Skeletal system

Front 9

Is Ehlers-Danlos syndrome dominant or recessive?
What system does it affect?

Back 9

Dominant

Skeletal system

Front 10

Is Familial hypercholesterolemia dominant or recessive?
What system does it affect?

Back 10

Dominant

Metabolic system

Front 11

Mutations that arise in germ cells (can/cannot) give rise to inherited diseases?

Mutations that arise in somatic cells (can/cannot) cause hereditary disease

Back 11

CAN

CANNOT

Front 12

Which disorder is primarily associated with defects in receptor proteins?

Back 12

autosomal dominant

Front 13

Which disorder is primarily associated with defects in enzymes?

Back 13

autosomal recessive

Front 14

(Dominant/Recessive) diseases are expressed in heterozygous.

(Dominant/Recessive) diseases are expressed as homozygous.

Back 14

Dominant

Recessive

Front 15

X-linked disorders are (dominant/recessive)

Back 15

Recessive

Front 16

Is Huntington disease dominant or recessive?
What system does it affect?

Back 16

Dominant

Nervous system

Front 17

Is Neurofibromatosis dominant or recessive?
What system does it affect?

Back 17

Dominant

Nervous system

Front 18

Is Marfan syndrom dominant or recessive?
What system does it affect?

Back 18

Dominant

Skeletal system

Front 19

Is Ehlers-Danlos syndrome dominant or recessive?
What system does it affect?

Back 19

Dominant

Skeletal system

Front 20

Is Familial hypercholesterolemia dominant or recessive?
What system does it affect?

Back 20

Dominant

Metabolic system

Front 21

Is Cystic fibrosis dominant or recessive?
What system does it affect?

Back 21

Recessive (deals with enzyme!)

metabolic system

Front 22

Is phenylketonuria dominant or recessive?
What system does it affect?

Back 22

Recessive

Metabolic system

Front 23

Is Lysosomal storage disease dominant or recessive?
What system does it affect?

Back 23

Recessive

Metabolic system

Front 24

Is Glycogen storage disease dominant or recessive?
What system does it affect?

Back 24

Recessive

Metabolic system

Front 25

What type of disorder is Duchenne muscular dystrophy and hemophilia A & B?

Back 25

X-linked recessive

Front 26

____ syndrome and _______ Syndrome (EDS) are defects in structural proteins

Back 26

Marfan syndrome and Ehlers-Danlose Syndrome (EDS)

Front 27

Marfan Syndrome is associated with defect dealing with ____

Back 27

elasticity

Front 28

Ehlers-Danlos Syndrome is associated with ______

Back 28

collagen production

(they have bleeding problems much like scurvy)

Front 29

What disorder is associated with defects in enzymes, produces pathological intercellular accumulations, and is referred to as inborn errors of metabolism?

Back 29

Autosomal recessive

Front 30

Pompe disease, Tay-Sachs disease, Niemann-Pick disease and Gaucher disease are all what type of storage diseases?

Back 30

Lysosomal storage diseases

Front 31

Is Cystic fibrosis dominant or recessive?
What system does it affect?

Back 31

Recessive (deals with enzyme!)

metabolic system

Front 32

Is phenylketonuria dominant or recessive?
What system does it affect?

Back 32

Recessive

Metabolic system

Front 33

Is Lysosomal storage disease dominant or recessive?
What system does it affect?

Back 33

Recessive

Metabolic system

Front 34

Is Glycogen storage disease dominant or recessive?
What system does it affect?

Back 34

Recessive

Metabolic system

Front 35

What type of disorder is Duchenne muscular dystrophy and hemophilia A & B?

Back 35

X-linked recessive

Front 36

____ syndrome and _______ Syndrome (EDS) are defects in structural proteins

Back 36

Marfan syndrome and Ehlers-Danlose Syndrome (EDS)

Front 37

Marfan Syndrome is associated with defect dealing with ____

Back 37

elasticity

Front 38

Ehlers-Danlos Syndrome is associated with ______

Back 38

collagen production

(they have bleeding problems much like scurvy)

Front 39

What disorder is associated with defects in enzymes, produces pathological intercellular accumulations, and is referred to as inborn errors of metabolism?

Back 39

Autosomal recessive

Front 40

Pompe disease, Tay-Sachs disease, Niemann-Pick disease and Gaucher disease are all what type of storage diseases?

Back 40

Lysosomal storage diseases

Front 41

Lysosomal storage diseases are (dominant/recessive)

Back 41

autosomal RECESSIVE!

Front 42

What is the normal human karyotype?

Back 42

46XX for females
46XY for males

Front 43

What is aneuploidy?

Back 43

Abnormal chromosome number (often caused by nondisjunction or anaphase lag)

Front 44

What is Trisomy 21?

Back 44

Down Syndrome, 47 XX +21

Front 45

What is Trisomy 18?

Back 45

Edwards Syndrome, 47 XX +18

Front 46

What is Trisomy 13?

Back 46

Patau Syndrome, 47 XX +13

Front 47

What is Klinefelter Syndrome?

Back 47

hypergonadism in males; trisomy

Front 48

What is Turner Syndrome?

Back 48

hypergonadism in females; monosomy; 45X