Class 8

Question 1

Organogenesis

Normal Embryonic Development

Answer 1

Cell division, organ development

Question 2

What are teratogens

Normal Embryonic Development

Answer 2

Cause of fetal abnormalities

Question 3

M/C Teratogen

Answer 3

Unknown

Question 4

Physical Teratogen Examples

Exogenous Teratogens

Answer 4

Physical: X-rays, Radiation
Chemical: Alcohol

Question 5

What is FAS

Exogenous Teratogens

Answer 5

Syndrome caused by alcohol
Affects brain development

Question 6

How can Microbial Teratogens affect fetus indirectly

Exogenous Teratogens

Answer 6

Weakening/exhausting of mother causing decrease in fetus development

Question 7

What is TORCH and what does it stand for?

Exogenous Teratogens

Answer 7

Human pathogens that are noxious to fetus.
Toxoplasma
Other
Rubella
Cytomegalovirus
Herpes Simplex

Question 8

How does Rubella affect fetus

TORCH

Answer 8

Small brain, heart defects, inflamed liver, lungs, lymph nodes

Question 9

How Toxoplasmosis and CMV affect fetus?

TORCH

Answer 9

Brain abnormalities, small eyes w/ cataracts, calcifications

Question 10

How herpes virus affects fetus?

TORCH

Answer 10

skin lesions

Question 11

Two types of chromosomal abnormalities

Chromosomal abnormalities

Answer 11

Structural
Numerical - trisomy (+1) or monosomy (-1)

Question 12

Chromosomal abnormalities can invole

Chromosomal abnormalities

Answer 12

Autosomes
Sex chromosomes

Question 13

What is Down’s Syndrome associated with

Trisomy 21

Answer 13

Three autosome 21
Maternal origin

Question 14

Symptoms of Down Syndrome

Trisomy 21

Answer 14

Hypotonia, Hypermobility, Upper cervical instability

Question 15

What is more common sex or autosome abnormalities?

Abnormalities of sex chromosomes

Answer 15

Sex, less lethal too

Question 16

Pathogenesis of Turner’s Syndrome

Turner’s Syndrome

Answer 16

Missing Y chromosome
Sex organs don’t develop
No puberty, sex characteristics

Question 17

Pathogenesis of Klinefelter’s Syndrome

Klinefelter’s Syndrome

Answer 17

Trisomy - 3 sex chromosomes
Male genital organs not developed
No puberty

Question 18

Single gene disorders can be either…

Single-gene disorders

Answer 18

Dominant or recessive

Question 19

Human traits can be expressed as what 4 things?

Mendelian Genetics

Answer 19

Autosomal Dominant
Autosomal Recessive
Sex-linked recessive
Sex-linked dominant (rare)

Question 20

Autosomal Dominant Diseases covered in class are?

Autosomal Dominant Diseases

Answer 20

Marfan’s Syndrome - connective tissue
Familal hypercholesterolemia - Cardiovascular system

Question 21

Which 3 systems does Marfan’s Syndrome primarily affect?

Autosomal Dominant Diseases

Answer 21

Skeletal - slender
Cardiovascular - weak
Ocular - abnormalities

Question 22

How does Familial Hypercholesterolemia affect person?

Autosomal Dominant Diseases

Answer 22

Higher cholesterol in blood from mutated LDL recepter gene

Question 23

What are Xanthomas

Familial Hypercholesterolemia

Answer 23

Lipid rich yellow nodules (phagosytized cholesterol)

Question 24

Autosomal recessive disorders are only expressed when?

Autosomal Recessive Disorders

Answer 24

One gene inherited from each parent

Question 25

What is Cystic Fibrosis ## Footnote Autosomal Recessive Disorders

Answer 25

M/c Autosomal Ressessive disorder Obstruction of organs due to less water in secretions (Lack of NaCl)

Question 26

What is Phenylketonuria (PKU) ## Footnote Autosomal Recessive Disorders

Answer 26

Missing enzyme for metabolizing phenylalanine Phenylalanine accumulates and converts into phenylpyruvic acid (toxic)

Question 27

What are two X-linked recessive disorders? ## Footnote X-Linked Recessive Disorders

Answer 27

Hemophilia and Muscular Dystrophy (rarely express in females)

Question 28

What is hemophilia? ## Footnote X-Linked Recessive Disorders

Answer 28

Bleeding disorder - no clotting factors Need clotting factor infusion

Question 29

What is Muscular Dystrophy? ## Footnote X-linked Recessive Disorders

Answer 29

Abnormal Dystrophin Muscles break down faster - lowers lifespan

Question 30

What is Multifactorial Inheritance ## Footnote Multifactorial Inheritance

Answer 30

Family diseases not according to Mendelian genetics Several genes also influenced exogenously

Question 31

What is Anencephaly? ## Footnote Multifactorial Inheritance

Answer 31

Incomplete fusion of midline structures Brain/spinal cord severe disturbance

Question 32

What could reduce the risk of Anencephaly ## Footnote Multifactorial Inheritance

Answer 32

Folic Acid

Question 33

What is Diabetes Mellitus ## Footnote Multifactorial Inheritance

Answer 33

Metabolism disturbance causing hyperglycemia

Question 34

What is Prenatal Diagnosis used for? What are the four types covered in class? ## Footnote Prenatal Diagnosis

Answer 34

Test for abnormalities 1. Ultrasonic 2. Chorionic Villus biopsy 3. Amniotic fluid analysis 4. Maternal blood analysis

Question 35

What can ultrasonographic examination detect? ## Footnote Prenatal Diagnosis

Answer 35

malformed head, extremities, organs, placenta

Question 36

Chorionic villus biopsy ## Footnote Prenatal Diagnosis

Answer 36

Provide fetal cells for chromosomal analysis/biochemical testing

Question 37

Amniotic fluid analysis ## Footnote Prenatal Diagnosis

Answer 37

Fluid from amniotic sac for chemical/genetic analysis

Question 38

Maternal Blood Analysis ## Footnote Prenatal Diagnosis

Answer 38

High AFP levels common in certan fetal abnormalities

Question 39

Triple Screen Marker test ## Footnote Maternal Blood Analysis

Answer 39

Test for AFP, human chorionic gonadotropin, unconjugated estriol