Class 7 Flashcards

1
Q

Organogenesis

A

Cell division, organ development

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2
Q

Physical Exogenous Teratogens

A

X-rays, Radiation

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3
Q

Chemical Exogenous Teratogens

A

M/c alcohol

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4
Q

Alcohol as an exogenous teratogen can result in

A

Fetal alcohol syndrome

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5
Q

Typical features of FAS

A

reduced mental, low iq,

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6
Q

Microbial teratogens can effect fetus how?

A

Directly by crossing placenta
Indirectly by weakened mother

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7
Q

What does TORCH stand for?

A

Toxoplasma
Other
Rubella
Cytomegalovirus
Herpes simplex

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8
Q

Rubella is a viral infection that causes what effects?

A

Brain and heart defects

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9
Q

Toxoplasmosis and CMV causes what effects?

A

Abnormalities in brain, small eyes, cataracts

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10
Q

Herpes Virus causes what effects?

A

Skin lesions

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11
Q

Endogenous teratogens often result in what?

A

Miscarriage

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12
Q

Chromosome abnormalities can be structural or numerical. Describe both

A

Structural: chromosomes structure is abnormal

Numerical: Number of chromosomes abnormal
Trisomy: +1 chromosome
Monosomy -1 chromosome

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13
Q

Chromosomal abnormalities can involve what 2 things?

A

autosomes
sex chromosomes

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14
Q

What is Trisomy 21/ Down’s syndrome is associated with what?

A

Translocation or 3 autosome 21, maternal orgin

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15
Q

Trisomy 21 symptoms

A

Mental disability, wide face, short arms/legs

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16
Q

Trisomy 21 causes hypotonia and what else?

A

hypermobility, upper cervical instability

17
Q

Which is more common? Abnormal sex or autosome?

A

Sex - less lethal, less miscarriage

18
Q

Describe the pathogenesis sex chromosome abnormalities

A

Both chromosomes go into one egg instead of both

19
Q

What is Turner’s Syndrome

A

Absence of Y chromosome
Organs don’t fully develop
No sex hormones/puberty

20
Q

What is a hypoplastic uterus and amenorrhea (Turner’s Syndrome)

A

Underdeveloped uterus
Amenorrhea

21
Q

What is Klienfelter’s Syndrome

A

3 sex chromosomes
Male genital organs not fully developed

22
Q

What are alleles?

A

Genes on autosome, which are expressed in duplicates

23
Q

Autosomal dominant inheritance has what % chance of offspring

A

50%

24
Q

Marfan’s Syndrome is an Autosomal Dominant Disease that effects what 3 systems

A

Skeletal
Cardiovascular
Ocular Changes

25
Q

Familial Hypercholesterolemia is Autosomal Dominant disease resulting in?

A

Higher cholesterol in blood
Cardiovascular disease (LDL in arteries)

26
Q

Familial Hypercholesterolemia causes xanthomas, which are?

A

Yellow nodules consisting of macrophages