Class 8 Flashcards
Organogenesis
Normal Embryonic Development
Cell division, organ development
What are teratogens
Normal Embryonic Development
Cause of fetal abnormalities
M/C Teratogen
Unknown
Physical Teratogen Examples
Exogenous Teratogens
Physical: X-rays, Radiation
Chemical: Alcohol
What is FAS
Exogenous Teratogens
Syndrome caused by alcohol
Affects brain development
How can Microbial Teratogens affect fetus indirectly
Exogenous Teratogens
Weakening/exhausting of mother causing decrease in fetus development
What is TORCH and what does it stand for?
Exogenous Teratogens
Human pathogens that are noxious to fetus.
Toxoplasma
Other
Rubella
Cytomegalovirus
Herpes Simplex
How does Rubella affect fetus
TORCH
Small brain, heart defects, inflamed liver, lungs, lymph nodes
How Toxoplasmosis and CMV affect fetus?
TORCH
Brain abnormalities, small eyes w/ cataracts, calcifications
How herpes virus affects fetus?
TORCH
skin lesions
Two types of chromosomal abnormalities
Chromosomal abnormalities
Structural
Numerical - trisomy (+1) or monosomy (-1)
Chromosomal abnormalities can invole
Chromosomal abnormalities
Autosomes
Sex chromosomes
What is Down’s Syndrome associated with
Trisomy 21
Three autosome 21
Maternal origin
Symptoms of Down Syndrome
Trisomy 21
Hypotonia, Hypermobility, Upper cervical instability
What is more common sex or autosome abnormalities?
Abnormalities of sex chromosomes
Sex, less lethal too
Pathogenesis of Turner’s Syndrome
Turner’s Syndrome
Missing Y chromosome
Sex organs don’t develop
No puberty, sex characteristics
Pathogenesis of Klinefelter’s Syndrome
Klinefelter’s Syndrome
Trisomy - 3 sex chromosomes
Male genital organs not developed
No puberty
Single gene disorders can be either…
Single-gene disorders
Dominant or recessive
Human traits can be expressed as what 4 things?
Mendelian Genetics
Autosomal Dominant
Autosomal Recessive
Sex-linked recessive
Sex-linked dominant (rare)
Autosomal Dominant Diseases covered in class are?
Autosomal Dominant Diseases
Marfan’s Syndrome - connective tissue
Familal hypercholesterolemia - Cardiovascular system
Which 3 systems does Marfan’s Syndrome primarily affect?
Autosomal Dominant Diseases
Skeletal - slender
Cardiovascular - weak
Ocular - abnormalities
How does Familial Hypercholesterolemia affect person?
Autosomal Dominant Diseases
Higher cholesterol in blood from mutated LDL recepter gene
What are Xanthomas
Familial Hypercholesterolemia
Lipid rich yellow nodules (phagosytized cholesterol)
Autosomal recessive disorders are only expressed when?
Autosomal Recessive Disorders
One gene inherited from each parent
What is Cystic Fibrosis
Autosomal Recessive Disorders
M/c Autosomal Ressessive disorder
Obstruction of organs due to less water in secretions (Lack of NaCl)
What is Phenylketonuria (PKU)
Autosomal Recessive Disorders
Missing enzyme for metabolizing phenylalanine
Phenylalanine accumulates and converts into phenylpyruvic acid (toxic)
What are two X-linked recessive disorders?
X-Linked Recessive Disorders
Hemophilia and Muscular Dystrophy
(rarely express in females)
What is hemophilia?
X-Linked Recessive Disorders
Bleeding disorder - no clotting factors
Need clotting factor infusion
What is Muscular Dystrophy?
X-linked Recessive Disorders
Abnormal Dystrophin
Muscles break down faster - lowers lifespan
What is Multifactorial Inheritance
Multifactorial Inheritance
Family diseases not according to Mendelian genetics
Several genes also influenced exogenously
What is Anencephaly?
Multifactorial Inheritance
Incomplete fusion of midline structures
Brain/spinal cord severe disturbance
What could reduce the risk of Anencephaly
Multifactorial Inheritance
Folic Acid
What is Diabetes Mellitus
Multifactorial Inheritance
Metabolism disturbance causing hyperglycemia
What is Prenatal Diagnosis used for? What are the four types covered in class?
Prenatal Diagnosis
Test for abnormalities
1. Ultrasonic
2. Chorionic Villus biopsy
3. Amniotic fluid analysis
4. Maternal blood analysis
What can ultrasonographic examination detect?
Prenatal Diagnosis
malformed head, extremities, organs, placenta
Chorionic villus biopsy
Prenatal Diagnosis
Provide fetal cells for chromosomal analysis/biochemical testing
Amniotic fluid analysis
Prenatal Diagnosis
Fluid from amniotic sac for chemical/genetic analysis
Maternal Blood Analysis
Prenatal Diagnosis
High AFP levels common in certan fetal abnormalities
Triple Screen Marker test
Maternal Blood Analysis
Test for AFP, human chorionic gonadotropin, unconjugated estriol
