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Pathology Exam III > Genetic Diseases III > Flashcards

Genetic Diseases III Flashcards

1
Q

trinucleotide repeat expansion diseases

A

fragile X syndrome

huntington disease

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2
Q

how is fragile X syndrome spread

A

x linked dominatent

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3
Q

how is huntinton disease spread

A

autosomal dominant

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4
Q

anticipation

A

genes rendered abnormal by amplification o fCG-rich units

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5
Q

in diseases with anticipation they get better or worse from generation to generation?

A

worse

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6
Q

trinucleotide repeat expation

A

have an increased number of a repeating series of 3 nucleotides

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7
Q

how are TREs impacted from 1 generation to the next

A

number of repeats increases from 1 generation to the next

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8
Q

fragile x syndrome

A

leading cause of inheritied mental impairment and leading known single-gene cause of autism

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9
Q

what mutation is fragile X syndrome associated with

A

increased CGG repeats in the FMR1 gene

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10
Q

intermediate range

A

range of repeats that is normally stable

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11
Q

premutation range

A

always changes in size

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12
Q

expansion from pre to full mutation occurs thorugh what

A

female meiosis

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13
Q

symptoms of fragile X syndrome

A

mental retardation
big ears
big upper jaw
big testicles

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14
Q

who has milder features of fragile X syndrome?

A

females

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15
Q

where is huntington disease gene

A

chromsomes 4

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16
Q

what is the mutation that causes HD

A

expansion of CAG trinucleotide repeats on HD gene

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17
Q

what is the mean age of onset for HD

A

35-44 years

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18
Q

what is the medial survival time of hD

A

15-18 years

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19
Q

early stages of HD

A

jerky movements
difficulty in mental palnning
depressed

20
Q

secondary stage of HD

A

chorea beocme more prominant

worsening dysarthria and dysphagia

21
Q

late stage of HD

A

behavior problems are lessened
severe motor disability
individual may become totally dependent, mute, incontinent

22
Q

what is edwards syndrome caused by

A

presence of an extra chromosome 18

23
Q

symptoms of edwards syndrome

A

rocker bottom feet
low set ears
congetical heart defect
prominent occiput

24
Q

what causes patau syndrome

A

trisomy 13

25
Q

symptoms of patau syndrome

A

polydactyly
cleft lip
microcephaly
rocker bottom feet

26
Q

trinucleotide repeat expansion

A

have an increased number of a repeating series of 3 nucleotides

27
Q

fragile x syndrome

A

leading cause of inherited mental impairment and leading known single-gene cause of autism

28
Q

where is huntington disease gene

A

chromosome 4

29
Q

symptoms of patau syndrome

A

polydactyly
cleft lip
microcephaly
rocker bottom feet

30
Q

what is turner syndrome caused by

A

monosome X

31
Q

phenotype of turner syndrome

A

female

32
Q

prenatal features of turnur syndrome

A

common to have early miscarriages

cystic hygroma

33
Q

clinical features of turner syndrome at birth

A

webbed neck
puffy hands and feet
low set rotated ears

34
Q

affects turner syndrome has on heart

A

left side cogential heart disease

bicuspid aortic valve

35
Q

characteristics of adults with turner syndrome

A 
short
sexual infantilism
webbed neck
broad chest
short 4th metacarpal
36
Q

turner syndrome during puberty

A

amenorrhea
failure to develop secondary sexual characteristics
streak ovaries

37
Q

when should you be considering turner syndrome

A

failure to thrive and short stature

38
Q

klinefelter syndrome

A

XXY

39
Q

characteristics of adult people with klinfelter

A 
taller
long arms and legs
gynecomatia
hypogonadism
learning disability, social immaturity
40
Q

what do klinfelter have increased risk of

A

breast cancer

41
Q

can males with klinefelter have children

A

no

42
Q

genetic imprinting

A

genes and chromosomes sometimes differ whether they are acquired form om or dad

43
Q

paternal deletion of 15q11 causes

A

prader willi

44
Q

maternal deletion of 15q11 causes

A

angelman syndrome

45
Q

what do people with prader willi look like

A

truncal obestiy
hypogonadism
small hands

46
Q

what do people with angelman look like

A

wide stance
arm position
spasticity

47
Q

general description of angelman

A

severely retarded, microcephaly and huge jaw

jerky, puppet like movements and laugh a lot

Pathology Exam III (10 decks)

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