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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
HOX genes determine _
organs and limbs
26
morphogen gradients determine
developmental identity of somites
27
fetal alcohol syndrome
example of a disruption (extrinsic); ethanol interferes with normal growth in embryo
28
symptoms of FAS
small head, small eye openings, short nose, thin upper lip, flat midface, low nasal bridge
29
zone of polarizing activity
secrete SHH gradient in hand (starts at pinky region)
30
duplication of ZPA
will get more pinky and ring fingers where duplication is placed (mirror hand)
31
mutation in Wnt3 germline mutation
would cause failure to form all four limbs as a result of no apical ectodermal ridges forming
32
mutation in Wnt3 somation cells
would result in failure of the AER to form on that one limb bud, resulting in "amelia" of only that limb
33
digit formation follows a _
SHH gradient
34
What explains transverse limb defect affecting only one limb?
vascular accident occurs, decreasing arterial blood flow to developing field due to an embolism or other event causing severe hypoxia
35
transverse limb defect
one where proximal structures are intact but structures distal to transverse plane are partially or completely absent
36
failure of cilia current
situs invertus, heart is on opposite side
37
Proteus syndrome
dysregulated development resulting in somatic mosaicism
38
proteus syndrome cause
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
teratogens
agents that produce congenital malformations
40
major human teratogens
ethanol, inhalants, metals, prescription medications, maternal medical conditions
41
retinoic acid embryopathy
caused by accutane (isotretinoin)
42
fetal hydantoin syndrome
caused by mother taking dilantin
43
teratogens at 0-3 weeks
failure of implantation or death of embryo
44
teratogens during weeks 3-8
maximal sensitivity to abnormal development; malformation of embryo may occur
45
teratogens at weeks 8-38
functional disturbance of fetus (mental retardation)
46
prenatal cocaine exposure
alters brain chemistry (dopamine receptors), constriction of maternal/fetal blood vessels causing hypoxia, fetal strokes, premature labor
47
thalidomide
inhibits angiogenesis (new blood vessels) induced by betaFGF and VEGF; originally used to treat morning sickness
48
thalidomide embryopathy
results in severe limb abnormalities
49
retinoic acid embryopathy
results in craniofacial defects, CP, eye and ear malformations, CNS defects
50
maternal diabetes
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
maternal phenylketonuria
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
TORCH
five infectious entities: toxoplasmosis, other agents, rubella, cytomegalovirus, herpes simplex
53
toxoplasmosis
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
other agents
syphilis, HIV, zika, listeria monocytogenes, varicella; often causes microcephaly (undergrowth of brain)
55
rubella in mother
can cause eye anomalies, microcephalus, heart disease, petechiae
56
cytomegalovirus
similar effects to toxoplasmosis
57
herpes simplex
viral encephalitis, hydranancephaly, skin vesicles, and scarring
58
physical teratogen
radiation

QUIZ 4 (5 decks)

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