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34 Cards in this Set
- Front
- Back
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What is the term for an error in developmental process?
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teratology
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what is a CAUSE of a morphological error?
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teratogen
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what is dysplasia?
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abormal development/organization of cells into tissue
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what is ODONTOMA an example of?
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dysplasia
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what is agenesis?
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incomplete/failure of an organ to develop
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what is Aplasia?
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persistence of a rudimentary organ
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what is hypoplasia?
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tissue that develops but in a much smaller state
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what is the term for tissue that has developed but is much smaller than normal,?
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hypoplasia
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what is the persistance of a rudimentary organ?
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aplasia
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what is the incomplete/failure of a organ to develop?
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agenesis
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what is ectopia?
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development of tissue in the wrong spot
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what is dystopia?
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tissue that has developed then migrated to the wrong spot
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what is the term for developed tissue that migrates to the wrong spot?
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dystopia
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What is the karyotype of a downs' kid?
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47 XX(orXY) +21
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What is cyclic netropenia? what is it an example of? Where is the mutation?
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decrease in circulating neutrophils about every 3 weeks. Mutation of elastase gene, AUTO DOMINANT
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Penetrance vs expressivity.
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penetrance - % of genotype w/ phenotype
expressivity - degree of phenotype that one w/ the genotype expresses |
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Neurofibromatosis
what is it? what is it an example of? |
tumors of nerve ttissue, resulting in cafe au lait spots, brown spots on eyes,
AUTO DOMINANT |
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cystic fibrosis
gene? symptoms? an example of? |
CFTR (regulate Cl- movement in/out of cells)
excessive thick mucous, Cor Pulmonae (hypertrophy of heart) Auto Recessive |
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Papillon Lefeure syndrome
gene? symptoms example of? |
Cathepsin C
Hyperkeratosis, prematyre tooth loss, PD Auto RECESSIVE |
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Vit D resistant hypophosphatemic Rickets
gene? example of? symptoms? |
PHEX gene
bowed bones, absent/ delayed teeth X DOMINANT |
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Hypoplastic Amelogenesis Imperfecta
gene? example of? symptoms? |
Amel gene
X Dominant enamel problems - Maledif than female |
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what is the difference between male and female symptoms of Hypoplastic amelogenesis imperfecta?
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males have yellow/thin enamel
females have VERTICAL FURROWS OF ENAMEL |
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what explains the vertical furrows of enamel in females in hypoplastic amelogenesis imperfecta?
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LYON HYPOTHESIS - 1 normal X and 1 irregular X (abnormal enamel)
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R/G colorblind is what type of disorder?
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x-recesive
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Fragile X
type of disorder? gene? symptoms? |
FMR-1 gene - trinucleotide repeat
MR, long face/ears, big balls X-recessive |
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describe the 3 nucleotide possibilities of the FMR-1 gene
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normal - 5-50 CGG repeats
pre-mutation - 50-200 CGG repeats NO SYMPTOMS mutation - 200+repeats - SYMPTOMS |
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Which is more common, isolated Cleft Palate or CL w/ or w/out CP?
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CL w/ or w/out CP
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Asians>white>black
is this CP or CL+/- CP? |
CL +/- CP
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Asian = white = black
CP or CL+/- CP? |
CP
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What is van der woude syndrome?
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a syndromic CL/CP that has paramedian Lip pits, and affects the IFR6 gene
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CL/CP is what type of disorder?
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multi-factorial
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what is exostoses?
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a multifactorial disorder w/ large outgrowths of compact bone in the midline of palate (TORUS PALATINUS) or on the lingual side of premolars (TORUS MANDIBULARIS)
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a - Cyclic neutropenia
b - cystic fibrosis c - papillon lefeurre d - Vit D resistant hypophosphatemic rickets e - hypoplastic amelogenesis imperfecta f - Fragile X g - van der woude syndrome |
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a - Elastase
b - CFTR c - cathepsin C d - AMEL e - FMR - 1 f - IFR6 g - PHEX |
