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QUIZ 4 > Developmental Genetics > Flashcards

Developmental Genetics Flashcards

1
Q

intrinsic causes of abnormality

A

how a mutation present in the embryo influences the developmental programs of the embryo and fetus

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2
Q

extrinsic causes of abnormalities

A

how an external factor disrupts normal developmental programs (drugs or pressure on fetus)

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3
Q

anomaly

A

structural defect of any type

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4
Q

dysmorphology

A

study of congenital birth defects that alter the shape or form of one or more parts of the body

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5
Q

dysmorphic trait origins

A

malformation, dysplasia, deformation, disruption

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6
Q

malformation

A

poor formation of tissue

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7
Q

dyplasia

A

abnormal organization of cells in tissue

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8
Q

deformation

A

unusual forces acting on normal tissue

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9
Q

disruption

A

breakdown of normal tissue

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10
Q

malformations and dysplasias result from _

A

intrinsic abnormalities in one or more genetic/developmental programs

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11
Q

deformations and disruptions result from _

A

extrinsic factors

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12
Q

deformations are usually from _

A

mechanical forces

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13
Q

disruptions are usually from _

A

trauma, amniotic bands, teratogens

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14
Q

syndromes

A

anomalies due to intrinsic factors; patterns of primary malformations or defects with a single underlying cause

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15
Q

multiple anomalies occur in _

A

parallel

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16
Q

sequence

A

results from a single, localized, primary anomaly causing a cascade of subsequent defects

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17
Q

signaling molecules

A

turn off/on transcription factors

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18
Q

transcription factors

A

regulate cell genes involved in differentiation, proliferation, etc.

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19
Q

families of signaling molecules

A

TGF-beta, FGF, SHH, Wnt

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20
Q

families of transcription factors

A

HOX, PAX, SOX, WT1

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21
Q

morphogens work by _

A

secretion or cell-cell contact and follow concentration gradients

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22
Q

neural tube formation

A

notochord secretes SHH and ectoderm secretes TGF-beta –> gradient activates TFs in different zones, giving dorsal, ventral, and motor neuronal subtypes

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23
Q

What concentrates morphogens?

A

currents generated by cilia

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24
Q

HOX genes

A

play major role in anterior-posterior segmentation

25
Q

HOX genes determine _

A

organs and limbs

26
Q

morphogen gradients determine

A

developmental identity of somites

27
Q

fetal alcohol syndrome

A

example of a disruption (extrinsic); ethanol interferes with normal growth in embryo

28
Q

symptoms of FAS

A

small head, small eye openings, short nose, thin upper lip, flat midface, low nasal bridge

29
Q

zone of polarizing activity

A

secrete SHH gradient in hand (starts at pinky region)

30
Q

duplication of ZPA

A

will get more pinky and ring fingers where duplication is placed (mirror hand)

31
Q

mutation in Wnt3 germline mutation

A

would cause failure to form all four limbs as a result of no apical ectodermal ridges forming

32
Q

mutation in Wnt3 somation cells

A

would result in failure of the AER to form on that one limb bud, resulting in “amelia” of only that limb

33
Q

digit formation follows a _

A

SHH gradient

34
Q

What explains transverse limb defect affecting only one limb?

A

vascular accident occurs, decreasing arterial blood flow to developing field due to an embolism or other event causing severe hypoxia

35
Q

transverse limb defect

A

one where proximal structures are intact but structures distal to transverse plane are partially or completely absent

36
Q

failure of cilia current

A

situs invertus, heart is on opposite side

37
Q

Proteus syndrome

A

dysregulated development resulting in somatic mosaicism

38
Q

proteus syndrome cause

A

AKT1 (growth promoting protein) is irregularly expressed resulting in malformations of vascular system, connective tissue, and skeleton; original germline mutation with somatic mutations following

39
Q

teratogens

A

agents that produce congenital malformations

40
Q

major human teratogens

A

ethanol, inhalants, metals, prescription medications, maternal medical conditions

41
Q

retinoic acid embryopathy

A

caused by accutane (isotretinoin)

42
Q

fetal hydantoin syndrome

A

caused by mother taking dilantin

43
Q

teratogens at 0-3 weeks

A

failure of implantation or death of embryo

44
Q

teratogens during weeks 3-8

A

maximal sensitivity to abnormal development; malformation of embryo may occur

45
Q

teratogens at weeks 8-38

A

functional disturbance of fetus (mental retardation)

46
Q

prenatal cocaine exposure

A

alters brain chemistry (dopamine receptors), constriction of maternal/fetal blood vessels causing hypoxia, fetal strokes, premature labor

47
Q

thalidomide

A

inhibits angiogenesis (new blood vessels) induced by betaFGF and VEGF; originally used to treat morning sickness

48
Q

thalidomide embryopathy

A

results in severe limb abnormalities

49
Q

retinoic acid embryopathy

A

results in craniofacial defects, CP, eye and ear malformations, CNS defects

50
Q

maternal diabetes

A

as baby grows, it will try to cure the mother’s diabetes by producing insulin, causing baby to have extra glucose resulting in weight gain; can result in hypoglycemia (increased insulin taking glucose away from brain) which result in brain damage

51
Q

maternal phenylketonuria

A

if mother does not adhere to strict diet, the baby can be exposed to high levels of phenylalanine causing low birth weight, slow growth, small head, heart disorders

52
Q

TORCH

A

five infectious entities: toxoplasmosis, other agents, rubella, cytomegalovirus, herpes simplex

53
Q

toxoplasmosis

A

a parasite that is ingested in undercooked meat and by exposure to cat feces; infection can affect muscle and nerve (hydropcephalus, eye and ear problems

54
Q

other agents

A

syphilis, HIV, zika, listeria monocytogenes, varicella; often causes microcephaly (undergrowth of brain)

55
Q

rubella in mother

A

can cause eye anomalies, microcephalus, heart disease, petechiae

56
Q

cytomegalovirus

A

similar effects to toxoplasmosis

57
Q

herpes simplex

A

viral encephalitis, hydranancephaly, skin vesicles, and scarring

58
Q

physical teratogen

A

radiation

QUIZ 4 (5 decks)

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