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Pathophysiology > Genetic Diseases > Flashcards

Genetic Diseases Flashcards

1
Q

what is the name of a substance that can genetically alter the embryo/fetus? give five examples

A

teratogen

radiation, pollution, drugs, chemicals, infections (especially viruses like zika)

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2
Q

what is it called when all it takes is one mutant gene to affect the offspring?

A

autosomal dominant

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3
Q

if one parent has the autosomal dominant mutant gene, what are the chances that the child will become affected?

A

50%

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4
Q

what is it called when there is a genetic problem with growth factor that causes cartilage abnormality? is this autosomal dominant or recessive?

A

achondroplasia

dominant

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5
Q

people with achondroplasia tend to have proportional or disproportional growth?

A

disproportional

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6
Q

what are some physical features and symptoms of achondroplasia?

A

enlarged forehead and large head
disproportional growth
bowed legs
susceptible to arthritis because the cartilage isn’t protecting the joints

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7
Q

What causes the autosomal (________) disease called Huntington’s Disease aka (______)?

A

dominant
Chorea
gene causes degeneration of basal ganglia (which are responsible for movement) and later holes in all of cerebral cortex and will develop full cognitive decline

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8
Q

what are the basal ganglia responsible for?

A

motor control

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9
Q

what is the cerebral cortex responsible for?

A

consciousness, thought, language, emotion, reasoning, and memory

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10
Q

when does huntington’s chorea/disease typically start to manifest s/s?

A

30-50 years old

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11
Q

what are some s/s of huntington’s chorea/disease?

A

irritability
quick, sudden, purposeless, jerking movements
progressive cognitive decline

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12
Q

what’s it called when a defect on chromosome 15 causes defective protein (fibrillin) in the connective tissue? is it autosomal dominant or recessive?

A

marfan’s syndrome

dominant

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13
Q

marfan’s syndrome affects the connective tissue of which tissues the most? how does this make their bodies look?

A

bone
heart
eyes
blood vessels

long, with longer wingspan than height

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14
Q

what are people with marfan’s syndrome prone to?

A

dislocations, hernias, chest wall abnormalities, spinal deformities
eye detachment and retinal dislocation
valve prolapse in heart
aneurysm in veins

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15
Q

how many copies of a gene does a person need to get in order to have an autosomal recessive disorder?

A

two!

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16
Q

if both parents are carriers (have one copy) of an autosomal recessive trait, what are the chances of the child showing symptoms of it?

A

25%

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17
Q

if both parents have an autosomal recessive condition, what are the chances that the child will have the condition?

A

100%

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18
Q

if only one parent is the carrier of an autosomal recessive disease, what is the chance that the child will have the condition?

A

0%

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19
Q

(_____) is an autosomal (_______) disease in which the liver cannot make the enzyme phenylalanine hydroxylase

A

phenylketonuria

recessive

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20
Q

if the liver cannot convert phenylalanine into tyrosine, what happens?

A

progressive brain damage

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21
Q

(_______) is an autosomal (________) disease in which the person has no enzyme tyrosinase, which is necessary to make (_______)

A

albinism
recessive
melanin

22
Q

what are some s/s of albinism?

A

no pigment in skin, hair, eyes.

susceptible to sunburn

23
Q

(______) cells line the surfaces of your body

A

epithelial

24
Q

epithelial cells are found on the

A

skin
blood vessels
urinary tract
organs

25
Q

(__________) is an autosomal recessive disease that affects the (__) channels on epithelial cells. This causes abnormal transport of (__) and (__) ions across epithelium

A

cystic fibrosis
Cl-
Cl- and Na+

26
Q

Cystic fibrosis mainly affects these five things:

A 
sweat glands
respiratory system
GI tract
Pancreas
Male reproductive system
27
Q

how does cystic fibrosis affect sweat glands?

A

very salty sweat

28
Q

how does cystic fibrosis affect sweat glands?

A

very salty sweat

29
Q

how does cystic fibrosis affect the respiratory system?

A

the airways become clogged with very sticky mucus
this leads to SOB, chest pain, coughing, and can’t fight off infections very well
chronic inflammation
the heart can become hypoxic

30
Q

how does cystic fibrosis affect the pancreas and GI?

A

thick secretions block GI, leading to inability to absorb nutrients. This leads to pain, gas, bloating, diarrhea, constipation, and inability to gain weight

31
Q

how does cystic fibrosis affect the male reproductive system?

A

some males are born without vas deferens

32
Q

Do men or women tend to get X linked recessive disorders more?

A

men

33
Q

list three x-linked recessive genetic disorders

A

fragile x syndrome
hemophilia a
duchenne muscular dystrophy

fuck him, dykes

34
Q

list three autosomal dominant disorders

A

achondroplasia
huntington’s
marfan’s syndrome

“ahm” pronounced “ahem” because it’s in the front

osteogenesis imperfecta

35
Q

list three autosomal recessive disorders

A

phenylketonuria
albinism
cystic fibrosis

in the “pac” like, in the “back”

36
Q

(_________) is when the long arm of the X chromosome is abnormal, and cant code the proper protein for brain development

A

fragile X syndrome

37
Q

As people move into adulthood with fragile X syndrome, the ears get (__________), the face gets (________), and they lose their presence of (______)

A

everted
long
shen

38
Q

(__________) is an X-linked recessive disorder in which there is a deficiency of (____________)

A

hemophilia A

clotting factor VIII

39
Q

(________________) is an x-linked recessive disorder in which the gene can’t code for a muscle protein called (________). It starts to show up around age (__), and the muscles have atrophied to the point where the patient can’t walk by age (__)

A

duchenne muscular dystrophy
dystrophin
6
12

40
Q

If a child with duchenne’s muscular dystrophy widens their stance in order to stand up, this is called:

A

Gower’s sign

41
Q

list the multifactorial inheritance disorders

A 
cleft lip/palate
club foot
certain cancers
congenital hip dislocation
hypertension
high cholesterol
42
Q

What is aneuploidy?

A

anything other than 46 chromosomes

43
Q

list three examples of aneuploidy

A

Trisomy 21 (down syndrome)
Turner syndrome
Kleinfelter syndrome

Try 21 Turning Keys

44
Q

Any problem with chromosome (__) can cause (________) or (_________)

A

21
trisomy 21
Down syndrome

45
Q

As the mother gets older, there is a higher risk of child having down syndrome?

A

yes

46
Q

(________) is when a person only has 45 chromosomes. Which chromosome are they missing in whole or part?

THIS WILL BE ON COMPS

A

Turner’s syndrome

either whole or partial deletion of x chromosome

47
Q

what is the phenotype of turner’s syndrome?

A 
they appear to be female
nonfunctional ovarian "streaks"
short stature with webbed neck
lack of female hormones
dry vaginal canal
no pubic hair or breast development
bone issues 
lymphadema of hands and feet
48
Q

(____________) is when a person has 47 chromosomes. What is the person’s genotype?

THIS WILL BE ON COMPS

A

Kleinefelter syndrome

XXY

49
Q

What is the phenotype for kleinefelter syndrome?

A

they appear as male
however, they have small, nonfunctioning testes that don’t produce enough testosterone so they have
small adam’s apple and high pitched voice
female pubic hair distribution
breast tissue
lack of muscle development
long legs, wide hips

50
Q

what is spina bifida and what can cause it?

A

spinal cord, meninges, and fluid are exposed through a gap in baby’s back bone
caused by folic acid deficiency in pregnant mother

51
Q

what are the meninges? name the three layers from external to internal

A

three layers of membranes that cover and protect the brain and spinal cord

dura mater
arachnoid mater
pia mater

52
Q

anencephaly and encephalocele can be caused by?

A

folic acid deficiency in pregnant mother

Pathophysiology (17 decks)

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