Teratology Flashcards

0
Q

fewer than ____ of human zygotes and less than ___ of all pregnancies result in normal, healthy babies

A

20-30%, half

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1
Q

one of every ___ infants die due to birth defects

A

5

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2
Q

as the embryo develops it ____ embryonic cellular potency and ____ cellular differentiation

A

loses, gains

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3
Q

major malformations usually occur during ____

A

organogenesis (critical period)

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4
Q

embryonic regulation:

A

internal rearrangements of development schedules, populations of cells which allows the fetus to respond to challenges

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5
Q

most birth defects are caused by:

A

unknown etiology

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6
Q

developmental plasticity

A

ability of a single gene to express more than one phenotype based on environmental conditions i.e. alligator eggs

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7
Q

aneuploidy

A

chromosome number is not a multiple of 23

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8
Q

aneuploidy is typically caused by:

A

nondisjunction during gametogenesis

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9
Q

Trisomy 18 is known as:

A

Edward syndrome

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10
Q

Trisomy 13 is known as:

A

Patau syndrome

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11
Q

Turner syndrome

A

45 X

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12
Q

Klinefelter syndrome

A

47 XXY

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13
Q

Cri du chat syndrome

A

deletion of short arm of chromosome 5

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14
Q

most common structural defect of X chromosome:

A

isochromosomes, centromere divides transversely instead of longitudinally

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15
Q

holoprosencephaly

A

SHH, failure of forebrain to completely separate into two lobes, wide range of brain, skull, and facial defects

16
Q

achondroplasia

A

FGFR3, dwarfism

17
Q

fetal hydantoin syndrome

A

embryo lacks epoxide hydrolase, can’t metabolize phenytoin

18
Q

progressive maternal physiological changes during gestation

A
  • plasma volume increases by 50%
  • CO rises 30-50%
  • GFR rises 50%
  • decreased systemic vascular resistance
  • decreased plasma protein binding
  • altered electrolyte and mineral metabolism
  • enhanced pulmonary ventilation
19
Q

preeclampsia

A

blood vessels in uterus constrict, restricts blood supply to placenta and increases blood pressure in the mother

20
Q

preeclampsia is associated with decreased levels of ___

A

VEGF

21
Q

maternal diabetes is associated with:

A
  • macrosomia
  • spina bifida
  • heart defects
  • skeletal defects
  • urinary, reproductive, and digestive tract defects
22
Q

hyperthermia is associated with:

A

neural tube defects

23
Q

malformations vs. deformations

A

deformations occur later in pregnancy, caused by a physical change

24
Q

amniotic bands

A

fibrous bands from amnion-tears that attach to/encircle body parts

25
Q

prader-willi syndrome

A

15q deletion in paternally-derived chromosome, associated with paternal hydrocarbon exposure

26
Q

rubella virus/german measles classic triad of clinical signs

A

cataracts, hearing defects, patent ductus arteriosus

27
Q

the most common viral infection at birth in US:

A

cytomegalovirus

28
Q

toxoplasma gondii

A

in feces (litter box)

29
Q

syphilis side effects

A
stillbirth
dental anomalies
deafness
mental retardation
skin/bone lesions
meningitis
30
Q

phenocopy

A

a phenotype can be caused by multiple factors

31
Q

the leading known preventable cause of mental retardation and birth defects is:

A

alcohol

32
Q

the most sensitive period for fetal alcohol syndrome is:

A

the first month of gestation

33
Q

how does smoking probably affect infant mortality?

A

by leading to more preterm births

34
Q

what halogenated aromatic hydrocarbons were most likely the bad actor, causing birth defects?

A

PCDF

35
Q

what causes ouch-ouch disease?

A

mercury exposure