Class 7 Flashcards
Organogenesis
Cell division, organ development
Physical Exogenous Teratogens
X-rays, Radiation
Chemical Exogenous Teratogens
M/c alcohol
Alcohol as an exogenous teratogen can result in
Fetal alcohol syndrome
Typical features of FAS
reduced mental, low iq,
Microbial teratogens can effect fetus how?
Directly by crossing placenta
Indirectly by weakened mother
What does TORCH stand for?
Toxoplasma
Other
Rubella
Cytomegalovirus
Herpes simplex
Rubella is a viral infection that causes what effects?
Brain and heart defects
Toxoplasmosis and CMV causes what effects?
Abnormalities in brain, small eyes, cataracts
Herpes Virus causes what effects?
Skin lesions
Endogenous teratogens often result in what?
Miscarriage
Chromosome abnormalities can be structural or numerical. Describe both
Structural: chromosomes structure is abnormal
Numerical: Number of chromosomes abnormal
Trisomy: +1 chromosome
Monosomy -1 chromosome
Chromosomal abnormalities can involve what 2 things?
autosomes
sex chromosomes
What is Trisomy 21/ Down’s syndrome is associated with what?
Translocation or 3 autosome 21, maternal orgin
Trisomy 21 symptoms
Mental disability, wide face, short arms/legs
Trisomy 21 causes hypotonia and what else?
hypermobility, upper cervical instability
Which is more common? Abnormal sex or autosome?
Sex - less lethal, less miscarriage
Describe the pathogenesis sex chromosome abnormalities
Both chromosomes go into one egg instead of both
What is Turner’s Syndrome
Absence of Y chromosome
Organs don’t fully develop
No sex hormones/puberty
What is a hypoplastic uterus and amenorrhea (Turner’s Syndrome)
Underdeveloped uterus
Amenorrhea
What is Klienfelter’s Syndrome
3 sex chromosomes
Male genital organs not fully developed
What are alleles?
Genes on autosome, which are expressed in duplicates
Autosomal dominant inheritance has what % chance of offspring
50%
Marfan’s Syndrome is an Autosomal Dominant Disease that effects what 3 systems
Skeletal
Cardiovascular
Ocular Changes
Familial Hypercholesterolemia is Autosomal Dominant disease resulting in?
Higher cholesterol in blood
Cardiovascular disease (LDL in arteries)
Familial Hypercholesterolemia causes xanthomas, which are?
Yellow nodules consisting of macrophages
