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Genetics > Structural Defects > Flashcards

Structural Defects Flashcards

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Biology 101 flashcards
1
Q

Congential means

A

born with

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2
Q

What is the rate of congenital defects

A

1 in 33

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3
Q

What is the most common cause of death in the first year

A

death from complications related to congenital defects

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4
Q

Anomoly

A

Deviation from normal - general term

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5
Q

Defect

A

Imperfection, lacking, deficient - general term

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6
Q

Morpogenesis

A

The development of a specific organ or tissue

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7
Q

Malformation

A

primary morphogenesis error, intinsic abrnormal development

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8
Q

anencephaly

A

born missing parts of the brain and skull - typically missing frontal and cerebral cortex, has neural tube defects - can be caused by lack of folate

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9
Q

Disruptions

A

secondary destruction of a previously normal organ system by a internal biologic factor i.e. amniotic band

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10
Q

Deformation

A

abrnomality caused by applied abnormal force to the fetus

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11
Q

What are the results of amniotic bands

A

caused by rupture of amniotic sac that causes fibrous bands that constricts limbs and blood flow, resulting in distal hypoplasia or amputation

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12
Q

Club feet: disruption or deformation?

A

Deformation - caused by in utero compression

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13
Q

Maternal causes of deformations

A
  • First pregnancy
  • small uterus
  • malformed uterus
  • leiomyomas
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14
Q

Fetal/placental causes of defomrations

A

oligohydramnios
multiple gestations
abnormal fetal presentation during deliveruy

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15
Q

Isolated defects

A

Single defect that accounts for 50-60% of al defects, usually only one organ system affected

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16
Q

Grouping defects - what are the three types

A

Sequence
Syndrome
Association

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17
Q

Association

A

Group of anomalies found together more often than statistical chance implies should happen - no idea why

VACTERL

18
Q

Sequence

A

defects caused by a single original abnormality (dominoes falling from a single point)

19
Q

Syndrome

A

group of anomalies that are related in cause but have their origins in different areas (dominoes knocked over from different points)

20
Q

VACTERL (Association)

A 
Veterbral
Anal atresia
Cardiac
TE Fistula
Renal and radial
Limb
21
Q

Potter sequence (Sequence)

A 
Oligohydrmnios - decreased amniotic fluid
Flat face
atypical hands and feet
hypoplastic lungs
breech delivery
22
Q

Agenesis

A

abscence of organ AND premordial cells

23
Q

Aplasia

A

Absence of organ due to lack of premodial development

24
Q

Atresia

A

Absence of opening to hollow organ

25
Q

Dysplasia

A

Abnormal organization of cells

26
Q

What is the break down of known and unknown genetic anomalies

A

Unknown 50-75%
Chromosomal - 10-15%
Single gene - 2-10%
Multifactorial (genes and environement) - unsure

27
Q

What percent of aneuploid fetuses die in utero

A

80%

28
Q

What chromosome is involved in Down, Patau and Edwards syndromes

A

21, 13, and 18 respectivley

29
Q

What infections can cause genetic anomalies in fetuses

A 
CHEAP TORCHES
Chicken Pox
Heapatitis
Enterovirus
Aids/HIV
Parvo B19
Toxoplasmosis
Other: GBS, Listeria, Candidia
Rubella
CMV
HSV
Every STD - gonorrhea, chlamydia, ureaplasma, HOV
Syphyllis
30
Q

Infant symptoms from CHEAP TORCHES infections

A

fever, poor feeding, peticiae, jaundice, blindness, hearing loss, hepatosplenomegaly, blueberry muffin babies

31
Q

Two examples of multifactorial anomalies

A

Hip Dysplasia, Cleft Palate

32
Q

how long is the embryo mostly unaffected by toxins

A

2 weeks

33
Q

What period of time is the CNS susceptible to exposure

A

3 weeks to full term

34
Q

What period of time is the heart susceptible to exposure

A

3 weeks to 8 weeks

35
Q

What period of time are the arms and legs susceptible to exposure

A

4 weeks to 8 weeks

36
Q

What period of time are the eyes susceptible to exposure

A

4 weeks to full term

37
Q

What period of time are the teeth susceptible to exposure

A

6 weeks to 16 weeks

38
Q

What period of time is the palate susceptible to exposure

A

6 weeks to 9 weeks

39
Q

What period of time are the external genitalia susceptible to exposure

A

7 weeks to full term

40
Q

cleft palate is thought to be related to what pathway

A

TGF Beta

Genetics (10 decks)

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