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Flashcards in Genetic Diseases Deck (50):
1

Those related to mutations in single genes?

mendelian disorders

2

These disorders arise from structural or numerical alterations in chromosomes?

chromosomal disorders

3

These disorders arise from genetic and environmental factors?

polygenic disorders

4

Transmitted from parents through genes?

hereditary

5

Present at birth?

congenital

6

both genes expressed?

codominant

7

multiple forms of alleles?

polymorphism

8

relative tendency to clinically express genotype?

penetrance

9

variations in clinical manifestations?

expressivity

10

many effects from mutation of one gene?

pleiotropy

11

many different genes causing one disease?

heterogeneity

12

examples of autosomal dominant diseases?

Marfan's, neurofibromatosis, familial hypercholesterolemia

13

Marfan's is due to defective extracellular glycoprotein encoded by genes...?

FBN1 or FBN2

14

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

Marfan's syndrome

15

Cardiovascular features of Marfans?

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

16

Which NF? bilateral acoustic neuromas?

type II

17

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

type I

18

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

NF1

19

cystic fibrosis: recessive or dominant?

recessive

20

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

cystic fibrosis

21

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

cystic fibrosis

22

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

cystic fibrosis

23

phenylketonuria: dominant or recessive?

recessive

24

phenylketonuria is characterized by lack of which enzyme?

phenylalanine hydroxylase (PAH)

25

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

phenylketonuria

26

management of phenylketonuria?

dietary restriction of Phe

27

examples of x-linked disorders?

hemophilia, bruton's agammaglobulinemia

28

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

Lyon hypothesis (barr bodies)

29

2n-1?

monosomy

30

2n+1?

trisomy

31

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

mosaicism

32

trisomy 21 with most caused by meiotic nondisjunction?

Down syndrome

33

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

down syndrome

34

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

down syndrome

35

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

klinefelter syndrome

36

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

klinefelter

37

oral manifestation of klinefelter?

taurodontism

38

hypogonadism in females, most 45 X

turner syndrome

39

most common cause of familial mental retardation?

fragile X

40

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

fragile X

41

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

fragile X

42

are mitochondrial dna diseases maternally or paternally inherited?

maternally

43

an example of mitochondrial dna disease?

leber hereditary optic neuropathy

44

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

genomic imprinting

45

examples of genomic imprinting?

prader-willi syndrome and angelman syndrome

46

deletion in maternal chromosome?

angelman

47

deletion in paternal chromosome?

prader-willi

48

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

prader-willi

49

happy puppet syndrome?

angelman

50

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

angelman