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physical teratogens
radiation exposure
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chemical teratogens
thalidomide etc
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microbial teratogen
viruses, bacteria, parasites
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FAS
chemical teratogen during development
small stature, abnormalities
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TORCH(ES)
- toxoplasma
- others
- rubella
- cytomegalovirus
- herpesvirus
- syphylis
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chromosomal anomalies
structural (translocation, deletions, inversions)
- or
- numerical - aneuploidy
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aneuploidy
- loss or gain of chromosome
- hyperdiploidy vs hypodiploidy
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down syndrome
trisomy 21
drinking age, most common
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patau syndrome
tri 13 - puberty
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mendelian inheritance
autosomal dominant (AD) vs recessive (AR)
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AD
- presents in heterozy or homozy
- either gender
- usually after puberty
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AR
- presents in homoz
- either gender
- usually before puberty
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Sex linked dominant
- more severe in males
- more prevalent in females
- no father son transmission
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sex linked recessive
- more severe and more prevalent in males
- no father son
females must be homozy or mono x(turners)
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Marfans
- AD
- defective fibrillin-1 )FBN1
- connective tissue anomalies
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achondroplastic dwarfism
- AD
- defective fibroblast growth factor receptor - causes short limbed dwarfism
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osteogenesis imperfecta type 1
- AD
- mildest severity
- blue sclera, pain join hypermobility, possible hearing loss
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osteogenesis imperfecta type 4
- AD
- intermediate severity
- normal sclera, moderate short stature, hearing loss
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familial hypercholesterolemia
- AD
- defective or absent LDL receptor, high LDL
- heterozygots - chol ~300
- homozyg - >700
- give high fiber, nicotinic acid
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Adult polycystic kidney disease APKD
- AD
- defective PKD1 gene
- altered bilateral renal cilia fxn, flow dysfunction
- most require renal replacement
- treatment = decrease protein intake
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Sperocytosis
- AD
- defective RBC membrane
- hereditary or autoimmune
- very fragile RBC, anemia, jaundice
- - detected by osmotic fragility test or coobs test
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huntingtons diseaes
- AD
- defective chromosome 4 cause CAG repeat
- dementia, psych disturbances
- affects sexes equally
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