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Pathology > Ch. 22 Congenital and Childhood Disorders > Flashcards

Ch. 22 Congenital and Childhood Disorders Flashcards

1
Q

Normal Pregnancy and Gestation: weeks 1-8

A

organs are formed (embryo stage)

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2
Q

Normal Pregnancy and Gestation:Weeks 9-13

A

face and limbs

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3
Q

Normal Pregnancy and Gestation:2nd trimester

A

rapid growth

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4
Q

Normal Pregnancy and Gestation:3rd trimester

A

maturation, refinement

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5
Q

placenta has ( ) plates

A

fetal and maternal

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6
Q

acts as fetal lungs, kidneys, GI tract

A

placenta

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7
Q

provides O2 and nutrients, diposes of metabolic wastes

A

placenta

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8
Q

job of gene

A

to make a protein

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9
Q

chromosomes: 22 pairs, govern all but gender

A

autosomes

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10
Q

chromosomes: gender determination

A

sex (X, Y)

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11
Q

critical thing about stem cells

A

asymetrical division

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12
Q

cells: all tissues but germ cells of ovary/testis

A

somatic

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13
Q

cells: stem cells that produce ova and sperm

A

germ cells

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14
Q

only ( ) chromosome defects are transmissible

A

germ cell

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15
Q

germ cell chromosome defects maybe be sex-link but most are…

A

autosomal

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16
Q

change from preestablished point

A

deformations

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17
Q

not well made from the beginning

A

malformations

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18
Q

deformation are caused by ( ) factors

A

mechanical

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19
Q

normal pregnacy= ( ) weeks

A

40-42 weeks from LMP

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20
Q

each trimester how long

A

~13 weeks

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21
Q

malformations caused by ( ) factors, which cause failure of embryologic

A

environmental (not transmissible) or genetic (transmissible)

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22
Q

space to close: neural tube doesn’t close

A

spinda bifida

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23
Q

tissue to divide:

A

syndactyly

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24
Q

structure to disappear:

A

thyroglossal duct cyst

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25
Q

organ to differentiate/grow:

A

thalidomide limb

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26
Q

normal pregancy and gestation: embryo

A

through 8th week

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27
Q

normal pregancy and gestation: fetus

A

week 9 to term

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28
Q

number of pregnancy

A

gravidity

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29
Q

number of pregnancies reaching 24 weeks

A

parity

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30
Q

ectoderm turns into

A

hair, nails, epidermis

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31
Q

endoderm turns into

A

mucosa of GI/resp tracts and liver, pancreas

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32
Q

mesoderm turns into

A

dermins, bone, smooth and skeletal muscle, blood vessels, pleura, peritoneum, pericardium, kidneys, gonads

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33
Q

mesoderm turns into

A

dermins, bone, smooth and skeletal muscle, blood vessels, pleura, peritoneum, pericardium, kidneys, gonads

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34
Q

absense of environemtnal factors (ex. deficient folate leads to)

A

neural tube defects

35
Q

environmental presence: an agent causing a defect is a ( )

A

teratogen

36
Q

envircomental factors present: TORCH infections

A

toxoplasmosis, Zika/syphalis/others, rubella, cytomegalovirus, herpes

37
Q

fetal alcohol syndrome is a ( ) factor

A

environmental

38
Q

fetal alcohol syndrom: ( ) cells affected

A

somatic

39
Q

is fetal alcohol syndrome transmissible?

A

no

40
Q

TORCH infections are environmental factors tat cause congenital ( )

A

malformations

41
Q

TORCH: ( ) cells affected

A

somatic

42
Q

TORCH: ( ) not transmissible but ( ) may be

A
  • condition

- infection

43
Q

( ) > chromosomes > genes > ( )

A
  • genome

- bases

44
Q

genetic bases

A

adenine, cytosine, thymine, guanin (ACTG)

45
Q

( ) is the genetic code

A

base sequence

46
Q

a specific segment of DNA; makes one certain protein

A

gene

47
Q

human have ~ ( ) genes

A

19, 000

48
Q

genetic makeup

A

genotype

49
Q

physical expression of genotype

A

phenotyme

50
Q

a permanent change in DNA

A

mutation (can be change of as little as one letter_

51
Q

genetic disease: causation purely genetic, mendelian rules

A

monogenic

52
Q

genetic disease: environmental feactors very important

A

polygenic

53
Q

genetic disease: causation purely genetic

A

cytogenetic

54
Q

genetic disease: sickle cell

A

monogenic

55
Q

genetic disease: type II diabetes

A

polygenic

56
Q

genetic disease: down syndrome

A

cytogenetic

57
Q

the DNA mutation in sickle cell disease is a ( ) mutation

A

point

58
Q

one of a number of alternative forms of the same gene (ex. one from om and one from dae; or mutation)

A

allele

59
Q

identical alleles

A

homozygous

60
Q

non-identical alleles

A

heterozygous

61
Q

( ) alleles have greater power of penetrance

A

dominant

62
Q

one element: the percent with the allele who show some effect

A

penetrance

63
Q

two elements of expressivity

A

severity and manner

64
Q

mendel’s rules: expression of ( ) disorders requires only one copy of the defective gene

A

autosomal dominant

65
Q

mendel’s rules: expression of ( ) disorders requires both copies of the defective gene

A

autosomal recessive

66
Q

mendel’s rules: rrecessive alleles on ( ) chromosomes are expressed

A

sex chromosomes (almost always X)

67
Q

x-linked recessive gene inheritance:

A

classic hemophilia

68
Q

mendel’s rules: single-gene defects are clinically expressed according to the type of ( )

A

defective protiein produced by the gene

69
Q

single-gene: ( ) protein –> alpha-1 antitrypsin (emphysems)

A

enzyme

70
Q

receptor or transport protein: copper (wilson’s disease)

A

transport

71
Q

receptor or transport protein:liver LDL cholesterol (familial hypercholesterolemia)

A

receptor

72
Q

cell growth regulation protein: protooncogene

A

pro-growth

73
Q

cell growth regulation protein: tumor suppressor

A

anti-growth

74
Q

defective fibrillin

A

Marfan syndrome

75
Q

defective coagulation factor VIII

A

hemophilia

76
Q

excess of CGG (on long arm of X)(trinucleotide repears)

A

fragile X syndrome

77
Q

environmental alteration of gene expression without DNA mutation. Can be heritable.

A

epigenetics

78
Q

expression of defect differs according to gener of parent

A

genomic imprinting

79
Q

most disease is ( ), a mix of environmental and genetic factors

A

multifactorial

80
Q

mutation affects either sex but transmibble only by female (mother –> daughter)

A

mitochondrial DNA genome

81
Q

normal genotype

A

46, XY

82
Q

structural chromosome abnormalities

A

extra or missing chromosomes

83
Q

some cytogenetic diseases are due to abnormal numbers of ( ) (down syndrome)

A

autosomes

84
Q

some cytogenetic dieseases are due to abnormal numbers of ( ) (klinefelter syndrome)

A

sex chromosomes

Pathology (14 decks)

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