Genetic Diseases

Question 1

Those related to mutations in single genes?

Answer 1

mendelian disorders

Question 2

These disorders arise from structural or numerical alterations in chromosomes?

Answer 2

chromosomal disorders

Question 3

These disorders arise from genetic and environmental factors?

Answer 3

polygenic disorders

Question 4

Transmitted from parents through genes?

Answer 4

hereditary

Question 5

Present at birth?

Answer 5

congenital

Question 6

both genes expressed?

Answer 6

codominant

Question 7

multiple forms of alleles?

Answer 7

polymorphism

Question 8

relative tendency to clinically express genotype?

Answer 8

penetrance

Question 9

variations in clinical manifestations?

Answer 9

expressivity

Question 10

many effects from mutation of one gene?

Answer 10

pleiotropy

Question 11

many different genes causing one disease?

Answer 11

heterogeneity

Question 12

examples of autosomal dominant diseases?

Answer 12

Marfan’s, neurofibromatosis, familial hypercholesterolemia

Question 13

Marfan’s is due to defective extracellular glycoprotein encoded by genes…?

Answer 13

FBN1 or FBN2

Question 14

Which disease? Tall with long extremities/digits, chest deformities, lens abnormalities

Answer 14

Marfan’s syndrome

Question 15

Cardiovascular features of Marfans?

Answer 15

mitral valve prolapse, dilation of the ascending aorta (may lead to dissecting aneurysm

Question 16

Which NF? bilateral acoustic neuromas?

Answer 16

type II

Question 17

Which NF? increased risk of developing malignant peripheral nerve sheath tumor

Answer 17

type I

Question 18

Which disease? multiple neurofibromas, cafe-au-lait pigmentation, mental retardation, Lisch nodules

Answer 18

NF1

Question 19

cystic fibrosis: recessive or dominant?

Answer 19

recessive

Question 20

which disease: defective ion transport leading to abnormally viscous secretions that obstruct organ passages?

Answer 20

cystic fibrosis

Question 21

which disease: hypertonic sweat, viscid secretions in the lungs-pulmonary infections, increased pancreatic mucin precipitation-pancreatic insufficiency?

Answer 21

cystic fibrosis

Question 22

Management for which disease: potent antimicrobial therapy, pancreatic enzyme replacement, bilateral lung transplant?

Answer 22

cystic fibrosis

Question 23

phenylketonuria: dominant or recessive?

Answer 23

recessive

Question 24

phenylketonuria is characterized by lack of which enzyme?

Answer 24

phenylalanine hydroxylase (PAH)

Question 25

Which disease: severe mental retardation at 6 months, seizures, decreased pigmentation of hair/skin, mousy odor

Answer 25

phenylketonuria

Question 26

management of phenylketonuria?

Answer 26

dietary restriction of Phe

Question 27

examples of x-linked disorders?

Answer 27

hemophilia, bruton's agammaglobulinemia

Question 28

what hypothesis explains partial expression of x-linked disorders in females?

Answer 28

Lyon hypothesis (barr bodies)

Question 29

2n-1?

Answer 29

monosomy

Question 30

2n+1?

Answer 30

trisomy

Question 31

2 or more cell populations with different chromosomal complements due to nondisjunction in mitosis?

Answer 31

mosaicism

Question 32

trisomy 21 with most caused by meiotic nondisjunction?

Answer 32

Down syndrome

Question 33

which disorder: epicanthic folds, flat facial profile, mental retardation?

Answer 33

down syndrome

Question 34

which disorder: cardiac malformations, infections, increased risk of developing leukemia?

Answer 34

down syndrome

Question 35

male hypogonadism with at least 2 X ---most 47, XXY

Answer 35

klinefelter syndrome

Question 36

which disorder: hypogonadism, long legs/arms, reduced facial/body/pubic hair, gynecomastia, testicular atrophy

Answer 36

klinefelter

Question 37

oral manifestation of klinefelter?

Answer 37

taurodontism

Question 38

hypogonadism in females, most 45 X

Answer 38

turner syndrome

Question 39

most common cause of familial mental retardation?

Answer 39

fragile X

Question 40

which disorder: triple repeat mutation, loss of straining or constriction in long arm of x chromosome?

Answer 40

fragile X

Question 41

which disorder: mental retardation, long face w/ large mandible, everted ears, large testicles?

Answer 41

fragile X

Question 42

are mitochondrial dna diseases maternally or paternally inherited?

Answer 42

maternally

Question 43

an example of mitochondrial dna disease?

Answer 43

leber hereditary optic neuropathy

Question 44

type of diseases arising from the inactivation of maternal or paternal genes during gametogenesis?

Answer 44

genomic imprinting

Question 45

examples of genomic imprinting?

Answer 45

prader-willi syndrome and angelman syndrome

Question 46

deletion in maternal chromosome?

Answer 46

angelman

Question 47

deletion in paternal chromosome?

Answer 47

prader-willi

Question 48

which disorder: obesity, mental retardation, short stature, hypotonia, small hands and feet, hypogonadism?

Answer 48

prader-willi

Question 49

happy puppet syndrome?

Answer 49

angelman

Question 50

which disorder: mental retardation, ataxic gait, seizures, inappropriate laughter?

Answer 50

angelman