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A - Step II Secrets > Genetics > Flashcards

Genetics Flashcards

1
Q

Specify how Adult polycystic kidney disease is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

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2
Q

Specify how Wiskott-Aldrich syndrome is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

X-linked recessive

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3
Q

Specify how Cleft lip/palate is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Polygenic d/o

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4
Q

Specify how Lesch-Nyhan syndrome is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

X-linked recessive

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5
Q

Specify how Alcoholism is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Polygenic disorder

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6
Q

Specify how Marfan syndrome is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

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7
Q

Specify how Galactosemia is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AR

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8
Q

Specify how Children’s polycystic kidney disease is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AR

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9
Q

Specify how MEN I/II syndrome is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

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10
Q

Specify how Bipolar disorder is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Polygenic disorder

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11
Q

Specify how Fabry disease is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

X-linked recessive

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12
Q

Specify how Neurofibromatosis is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

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13
Q

Specify how Glucose-6-phosphatase deficiency is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

X-linked recessive

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14
Q

Specify how Hunter disease is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

X-linked recessive

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15
Q

Specify how Sphingolipidoses (Tay-Sachs disease, Gaucher disease) is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AR

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16
Q

Specify how Tuberous sclerosis is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

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17
Q

Specify how Hemochromatosis is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AR

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18
Q

Specify how Fragile X syndrome is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

X-linked recessive

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19
Q

Specify how Bruton agammaglobulinemia is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

X-linked recessive

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20
Q

Specify how Mucopolysaccharidoses (e.g., Hurler disease) is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Autosomal recessive

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21
Q

Specify how Neural tube defects is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Polygenic disorder

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22
Q

Specify how Patau syndrome is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Chromosomal disorder (trisomy 13)

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23
Q

Specify how Myotonic dystrophy is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

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24
Q

Specify how Turner syndrome is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Chromosomal disorder (XO)

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25
Q

Specify how Huntington disease is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

26
Q

Specify how Wilson disease is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AR

27
Q

Specify how Familial hypercholesterolemia is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

28
Q

Specify how Down syndrome is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Chromosomal disorder (trisomy 21)

29
Q

Specify how Adrenogenital syndrome (e.g., 21-hydroxylase deficiency) is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AR

30
Q

Specify how Amino acid disorders (e.g., phenylketonuria) is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AR

31
Q

Specify how Duchenne muscular dystrophy is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

X-linked recessive

32
Q

Specify how Hereditary spherocytosis is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

33
Q

Specify how Familial polyposis coli is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

34
Q

Specify how Edward syndrome is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Chromosomal disorder (trisomy 18)

35
Q

Specify how Obesity is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Polygenic disorder

36
Q

Specify how Ischemic heart disease is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Polygenic disorder

37
Q

Specify how Hemophilia is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

X-linked recessive

38
Q

Specify how Glycogen storage diseases (e.g., McArdle disease) is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Autosomal recessive

39
Q

Specify how Schizophrenia is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Polygenic disorder

40
Q

Specify how Type 2 diabetes is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Polygenic disorder

41
Q

Specify how Sickle cell disease is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AR

42
Q

Specify how Pyloric stenosis is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Polygenic d/o

43
Q

Specify how Achondroplasia is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

44
Q

Specify how von Willebrand disease is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

AD

45
Q

Specify how Cystic fibrosis is usually transmitted genetically.

choices: AD or AR, X-linked recessive, chromosomal disorder, or polygenic disorder.

A

Autosomal recessive

46
Q

What is the likelihood that a mother with an autosomal dominant condition will pass the condition to the child if the father does not have the disease?

A
47
Q

Genetic testing reveals that both mother and father are carriers of a diseased gene for an autosomal recessive condition but do not have the condition themselves. What are the odds that their first child will develop the condition or be an asymptomatic carrier?

A
48
Q

The father has an X-linked recessive disorder. What are the chances that he will pass the disease to his son or daughter if the mother does not have the diseased gene?

A
49
Q

The mother is a carrier for an X-linked recessive disorder and the father is healthy. What are the odds that a son or daughter will develop the disease?

A
50
Q

How do you recognize Down syndrome?

A
51
Q

What is the second most common known cause of inherited mental retardation?

A
52
Q

How do you recognize Edward syndrome?

A
53
Q

What is Patau syndrome?

A
54
Q

How do you recognize Turner syndrome?

A
55
Q

Describe Klinefelter syndrome.

A
56
Q

What is the hallmark of cri du chat syndrome?

A
57
Q

What presentation suggests galactosemia?

A
58
Q

Describe the clinical findings in tuberous sclerosis.

A
59
Q

What causes Lesch-Nyhan syndrome? What classic behavior do patients exhibit?

A
60
Q

What causes Marfan syndrome? How do you recognize it?

A

A - Step II Secrets (40 decks)

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