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Fall 2014: Clinical Conditions 1 > Genetics (Week 4) > Flashcards

Genetics (Week 4) Flashcards

1
Q

of chromosomes in a normal human?

A

46 individual or 23 pairs

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2
Q

of autosomes?

A

22 pairs

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3
Q

of allsomes?

A

1 pair (#23)

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4
Q

The units of heredity?

A

genes

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5
Q

4 proteins that make up genes?

A

adenine (A)
guanine (G)
thymine (T)
cytosine (C)

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6
Q

Down syndrome is an example of what kind of genetic disorder?

A

Addition of an entire chromosome

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7
Q

Turner’s syndrome is an example of what kind of genetic disorder?

A

Deletion of an entire chromosome

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8
Q

Tay Sachs is an example of what kind of genetic disorder??

A

autosomal recessive

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9
Q

Duchenne is an example of what kind of genetic disorder??

A

x-linked

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10
Q

Mitochondrial disorders are examples of what kind of genetic disorder?

A

x-linked

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11
Q

Williams syndrome is an example of what kind of genetic disorder?

A

micro deletion of multiple genes within a chromosome

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12
Q

3 types of down syndrome?

A
  1. trisomy
  2. translocation
  3. mosaicism
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13
Q

What is Mosaicism?

A

mild form of down syndrome; only on some chromosomes

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14
Q

What is translocation?

A

a form of down syndrome in which a portion of chromosome 21 breaks off and goes elsewhere

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15
Q

What differentiates turner’s syndromes?

A

only in females

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16
Q

This syndrome occurs when there is only 1 copy of sex chromosomes?

A

Turners syndrome

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17
Q

short stature, broad chest, webbed neck, low hairline, extra skin at the nape of the neck, and shortening of the 4th and 5th metacarpals are all characteristic of?

A

Turner’s syndrome

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18
Q

Cubital valgus position is commonly seen in?

A

Turner’s syndrome

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19
Q

True or False: hearing problems are commonly seen in turners syndrome?

A

True

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20
Q

Cri-du-chat syndrome is a common example of what kind of genetic disorder?

A

a partial chromosomal deletion of chromosome 5

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21
Q

a high pitched cat cry is commonly seen in?

A

cri-du-chat

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22
Q

Microcephaly/micrognathia, wide slanted eyes, low set eyes, simian hands, and hypotonia are all characteristic of what genetic disorder?

A

Cri-du-chat

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23
Q

What genetic disorder comes from a micro-deletion of chromosome 7?

A

William’s syndrome

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24
Q

What genetic disorder is characterized by full lips and cheeks, small chin, star like pattern in the iris, and colic/irritable?

A

Williams syndrome

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25
Q

What genetic disorder is characterized by an extremely friendly and talkative demeanor but extremely sensitive (both in personality and hearing) as well?

A

Williams syndrome

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26
Q

What genetic disorder is characterized by hypercalcemia?

A

Williams syndrome

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27
Q

Pediatric cystic fibrosis is an example of what kind of genetic disorder?

A

autosomal recessive

28
Q

What is cystic fibrosis?

A

It is a chronic/progressive disorder affecting the exocrine gland (secrete into ducts)

29
Q

what systems are effected by cystic fibrosis (3)?

A

respiratory, GI, and reproductive

30
Q

What is meconium ileus and what is it most commonly seen in? Why is it bad?

A

It is when the first bowel movement an infant has is particularly sticky and thick

  • commonly seen in cystic fibrosis
  • it is bad because it creates an obstruction in the ileum causing an infant to have issues with absorbing vitamins A, E, D, and K
31
Q

Salty sweat and salty kisses is common in what genetic disorder?

A

Cystic fibrosis

32
Q

Genetic and sweat chloride tests are commonly used to test for this genetic disorder?

A

Cystic fibrosis

33
Q

True or false: With autosomal dominant disorders, the child will be a “carrier” for the disorder

A

False; either you have it or you don’t

34
Q

Neurofibromatosis is an example of what kind of genetic disorder?

A

Autosomal dominant

35
Q

A mutation on the NF1 gene on chromosome 17 results in?

A

Neurofibromatosis

36
Q

Cafe-au-lait spots, freckling in the groin and armpits, glaucoma, brown bumps on the iris of the eye are all characteristic of what disorder?

A

Neurofibromatosis

37
Q

What are tumors that grow along the nerve?

A

neurofibromas

38
Q

Hemophilia is what kind of genetic disorder?

39
Q

Albinism is what kind of genetic disorder?

40
Q

Color blindness is what kind of genetic disorder?

41
Q

Baldness is what kind of genetic disorder?

42
Q

True or False: Mitochondrial disorders affect the mother?

A

False; they dont affect the mother

43
Q

What does mitochondria do?

A

it is the energy/powerhouse of the cell

44
Q

What 3 areas of the body does mitochondria have major influence on?

A

Nerve, cerebellum, and muscles

45
Q

Eye muscle weakness, cardiomyopathy, myopathy, lack of coordination, hearin/vision deficitis, adrenal deficits, etc. are all characteristic of what genetic disorder?

A

A mitochondrial disorder

46
Q

Chemical reactions in the body that convert or use energy to maintain life?

A

metabolism

47
Q

2 types of metabolism?

A
  1. catabolism: the breakdown of larger molecules to produce energy
  2. anabolism: the synthesis of larger molecules for growth
48
Q

2 ways in which metabolic disorders can disrupt the body?

A
  1. the accumulation of abnormal substances

2. the abnormal functioning of enzymes/proteins

49
Q

Common complications with metabolic disorders (2)?

A
  1. intellectual disability

2. death

50
Q

3 types of metabolic disorders?

A
  1. SILENT (TYPE 1)- hormone or AA abnormalities
    - Ex. PKU
  2. ACUTE TOXICITY- AA, Carbs, OA, FA metabolism
    Ex. Urea cycle disorder or organic acidemia
  3. Progressive Neurological Deterioration-peroxisomal and lysosomal disorder
    Ex. Tay Sachs
51
Q

What is Progressive Neurological Deterioration?

A

a metabolic disorder in which the peroxisomal and lysosome aren’t functioning properly leading to an accumulation of “junk”
-begins in utero and progresses throughout life

52
Q

This genetic disorder occurs when there is a HEXA gene on chromosome 15?

A

Tay Sach’s disease

53
Q

Why does Tay Sach’s disease occur?

A

absence of a chemical that metabolizes toxic chemicals that act on nerve cells

54
Q

4 populations that tay sach’s disease has a high incidence in?

A
  1. Jewish
  2. Cajun
  3. French Canadian
  4. Older Amish
55
Q

This disease is characterized by muscle weakness/ataxia, deafness and blindness, seizures, increased startle response, and a red spot in the macula of the eye?

A

Tay Sach’s Disease

56
Q

Having a red spot on the macula of the eye is characteristic of which genetic disorder?

A

Tay Sach’s Disease

57
Q

This type of care allows for children to grow and develop with a serious illness by providing support to manage, prevent, and treat symptoms and side effects?

A

Pediatric Palliative Care

58
Q

This genetic disorder occurs because of a deficiency in the PAH enzyme?

59
Q

PKU is an example of what kind of genetic disorder?

A

an autosomal deficiency (metabolic error)

60
Q

PKU is common in what population?

A

Caucasians of European decent

61
Q

2 methods that are used to diagnose PKU?

A
  1. Serum testing

2. Urine test

62
Q

This genetic disorder is characterized by a loss of interest in food and activity along with a musty odor early in life?

63
Q

These 2 features are common in people with PKU?

A

Blonde hair

Pale skin

64
Q

What type of diet would you prescribe to an individual with PKU?

A

low protein supplemented with amino acids

65
Q

Personality disorder that is commonly seen with untreated PKU?

A

Schizophrenia

Fall 2014: Clinical Conditions 1 (17 decks)

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