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Dental Pathology > Genetic Diseases > Flashcards

Genetic Diseases Flashcards

1
Q

Those related to mutations in single genes?

A

mendelian disorders

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2
Q

These disorders arise from structural or numerical alterations in chromosomes?

A

chromosomal disorders

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3
Q

These disorders arise from genetic and environmental factors?

A

polygenic disorders

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4
Q

Transmitted from parents through genes?

A

hereditary

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5
Q

Present at birth?

A

congenital

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6
Q

both genes expressed?

A

codominant

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7
Q

multiple forms of alleles?

A

polymorphism

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8
Q

relative tendency to clinically express genotype?

A

penetrance

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9
Q

variations in clinical manifestations?

A

expressivity

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10
Q

many effects from mutation of one gene?

A

pleiotropy

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11
Q

many different genes causing one disease?

A

heterogeneity

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12
Q

examples of autosomal dominant diseases?

A

Marfan’s, neurofibromatosis, familial hypercholesterolemia

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13
Q

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

A

FBN1 or FBN2

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14
Q

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

A

Marfan’s syndrome

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15
Q

Cardiovascular features of Marfans?

A

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

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16
Q

Which NF? bilateral acoustic neuromas?

A

type II

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17
Q

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

A

type I

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18
Q

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

A

NF1

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19
Q

cystic fibrosis: recessive or dominant?

A

recessive

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20
Q

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

A

cystic fibrosis

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21
Q

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

A

cystic fibrosis

22
Q

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

A

cystic fibrosis

23
Q

phenylketonuria: dominant or recessive?

A

recessive

24
Q

phenylketonuria is characterized by lack of which enzyme?

A

phenylalanine hydroxylase (PAH)

25
Q

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

A

phenylketonuria

26
Q

management of phenylketonuria?

A

dietary restriction of Phe

27
Q

examples of x-linked disorders?

A

hemophilia, bruton’s agammaglobulinemia

28
Q

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

A

Lyon hypothesis (barr bodies)

29
Q

2n-1?

A

monosomy

30
Q

2n+1?

A

trisomy

31
Q

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

A

mosaicism

32
Q

trisomy 21 with most caused by meiotic nondisjunction?

A

Down syndrome

33
Q

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

A

down syndrome

34
Q

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

A

down syndrome

35
Q

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

A

klinefelter syndrome

36
Q

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

A

klinefelter

37
Q

oral manifestation of klinefelter?

A

taurodontism

38
Q

hypogonadism in females, most 45 X

A

turner syndrome

39
Q

most common cause of familial mental retardation?

A

fragile X

40
Q

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

A

fragile X

41
Q

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

A

fragile X

42
Q

are mitochondrial dna diseases maternally or paternally inherited?

A

maternally

43
Q

an example of mitochondrial dna disease?

A

leber hereditary optic neuropathy

44
Q

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

A

genomic imprinting

45
Q

examples of genomic imprinting?

A

prader-willi syndrome and angelman syndrome

46
Q

deletion in maternal chromosome?

A

angelman

47
Q

deletion in paternal chromosome?

A

prader-willi

48
Q

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

A

prader-willi

49
Q

happy puppet syndrome?

A

angelman

50
Q

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

A

angelman

Dental Pathology (22 decks)

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