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Step 2 Secrets 🍾 > Genetics > Flashcards

Genetics Flashcards

1
Q

Inheritance pattern of von Willebrand disease?

A

AD

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2
Q

Inheritance pattern of neurofibromatosis?

A

AD

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3
Q

Inheritance pattern of MEN I/II syndrome?

A

AD

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4
Q

Inheritance pattern of achondroplasia?

A

AD

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5
Q

Inheritance pattern of sphingolipidoses (Tay-Sachs disease, Gaucher disease)?

A

AR

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6
Q

Inheritance pattern of Fabry disease?

A

X-linked recessive (exception to the rule that sphingolipidosis disorders are AR)

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7
Q

Inheritance pattern of mucopolysaccharidoses (e.g. Hurler disease)?

A

AR

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8
Q

Inheritance pattern of Hunter disease?

A

X-linked disease (exception to the rule that mucolipopolysaccharidase disorders are AR)

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9
Q

Inheritance pattern of glycogen storage diseases (e.g. McArdle disease)?

A

AR

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10
Q

Inheritance pattern of cystic fibrosis?

A

AR

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11
Q

Inheritance pattern of Marfan syndrome?

A

AD

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12
Q

Inheritance pattern of Huntington disease?

A

AD

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13
Q

Inheritance pattern of pyloric stenosis?

A

Polygenic

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14
Q

Inheritance pattern of cleft lip/palate?

A

Polygenic

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15
Q

Inheritance pattern of type II DM?

A

Polygenic

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16
Q

Inheritance pattern of Down syndrome?

A

Chromosomal disorder (trisomy 21)

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17
Q

Inheritance pattern of galactosemia?

A

AR

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18
Q

Inheritance pattern of familial hypercholesterolemia?

A

AD

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19
Q

Inheritance pattern of amino acid disorders (e.g. phenylketonuria)?

A

AR

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20
Q

Inheritance pattern of Edward syndrome?

A

Chromosomal disorder (trisomy 18)

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21
Q

Inheritance pattern of sickle cell disease?

A

AR

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22
Q

Inheritance pattern of hemophilia?

A

X-linked recessive

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23
Q

Inheritance pattern of G6PD deficiency?

A

X-linked recessive

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24
Q

Inheritance pattern of Patau syndrome?

A

Chromosomal disorder (trisomy 13)

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25
Q

Inheritance pattern of Lesch-Nyhan syndrome?

A

X-linked recessive

26
Q

Inheritance pattern of obesity?

A

Polygenic

27
Q

Inheritance pattern of neural tube defects?

A

Polygenic

28
Q

Inheritance pattern of Turner syndrome?

A

Chromosomal disorder (XO)

29
Q

Inheritance pattern of schizophrenia?

A

Polygenic

30
Q

Inheritance pattern of Duchenne muscular dystrophy?

A

X-linked recessive

31
Q

Inheritance pattern of Wiskott-Aldrich syndrome?

A

X-linked recessive

32
Q

Inheritance pattern of Bruton agammaglobulinemia?

A

X-linked recessive

33
Q

Inheritance pattern of Fragile X syndrome?

A

X-linked recessive

34
Q

Inheritance pattern of children’s polycystic kidney disease?

A

AR

35
Q

Inheritance pattern of Wilson disease?

A

AR

36
Q

Inheritance pattern of bipolar disorder?

A

Polygenic

37
Q

Inheritance pattern of ischemic heart disease?

A

Polygenic

38
Q

Inheritance pattern of alcoholism?

A

Polygenic

39
Q

Inheritance pattern of hemochromatosis?

A

AR

40
Q

Inheritance pattern of adrenogenital syndrome (e.g. 21-hydroxylase deficiency)?

A

AR

41
Q

Inheritance pattern of familial polyposis coli?

A

AD

42
Q

Inheritance pattern of adult polycystic kidney disease?

A

AD

43
Q

Inheritance pattern of hereditary spherocytosis?

A

AD

44
Q

Inheritance pattern of tuberous sclerosis?

A

AD

45
Q

Inheritance pattern of myotonic dystrophy?

A

AD

46
Q

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

A

50%. Father is not a carrier (AD disease express themselves in carriers), and it is reasonable to assume the mother has one copy of the diseased gene and one normal gene.

47
Q

Genetic testing reveals that both mother and father are carriers of a disease gene for an AR 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

25% risk of developing the condition, 50% risk of being carrier, and 25% chance of not inheriting the diseased gene at all

48
Q

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

There is no chance that he will pass the condition to his son. There is a 100% chance that he will pass the diseased gene to his daughter but because it is X-linked recessive, she has no chance of developing the condition.

49
Q

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

A

50% change for a son and no chance for daughter. However, there is a 50% chance that daughter will be a carrier.

50
Q

How do you recognize Down syndrome?

A

Most common known cause of mental retardation in the US. Biggest risk factor is maternal age (1 in 1500 offspring of 16 y/o mothers and 1 in 25 offspring of 45 y/o mothers).
Look for hypotonia, transverse palmar crease, and characteristic facies. Congenital cardiac defects (esp. VSD) are common, and affected persons have an increased risk for leukemia, duodenal atresia, and early Alzheimer disease.

51
Q

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

A

Fragile X syndrome (X-linked recessive). Affected males often have large testicles.

52
Q

How do you recognize Edward syndrome?

A

Affects females more than males. Characteristics include mental retardation, small size for age, small head with hypoplastic mandible, and low-set ears, and clenched fist with the index finger overlapping the third and fourth fingers (almost pathognomonic).

53
Q

What is Patau syndrome?

A

Presents with mental retardation, apnea, deafness, holoprosencephaly (fusion or cerebral hemispheres), myelomeningocele, CV abnormalities, and rocker-bottom feet.

54
Q

How do you recognize Turner syndrome?

A

Nuchal lymphedema at birth, short stature, webbed neck, widely spaced nipples, amenorrhea, and lack of breast development (due to primary ovarian failure). Coarctation of the aorta is common, and you may see horse-shoe kidneys or cystic hygroma. Buccal smear classically reveals absent Barr bodies.

55
Q

Describe Klinefelter syndrome.

A

XXY instead of XY. Tall with small testes (less than 2 cm in length), gynecomastia, sterility, and slightly decreased IQ (on average).

56
Q

What is the hallmark of cri du chat syndrome?

A

Deletion on the short arm of chromosome 5. Look for a high-pitched cry that sounds like the cry of a cat along with severe mental retardation.

57
Q

What presentation suggests galactosemia?

A

Congestinal cataracts and neonatal sepsis with vomiting after breast-feeding. Pts should avoid galactose- and lactose-containing foods.

58
Q

Describe the clinical findings in tuberous sclerosis.

A

Presents with hypopigmented skin macules, seizures, mental retardation, CNS hamartomas (tubers), and increased risk for cardiac rhabdomyomas and renal tumors known as angiomyolipomas. Look for positive family history.

59
Q

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

A

Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which causes congenital hyperuricemia. Patients have mental retardation and self-mutilating behavior. Classic example is patient who bites off his or her own fingers.

60
Q

What causes Marfan syndrome? How do you recognize?

A

AD connective tissue disorder caused by abnormal microfibrillin protein and associated with ocular, skeletal, and CV problems. Look for positive family history. Patients are tall and have arachnodactyly (long, thin fingers), hyperextensible joints, mitral valve prolapse, dislocation of the lens of the eye, and a high risk for thoracic aortic dissection.

Step 2 Secrets 🍾 (22 decks)

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