MOD 4 Part 3 Flashcards
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complex multigenic disorders
multifactorial inheritance: implies interaction of what? most common cause of? including?
what is suggestive of a complex multigenic disorder?
Chromosomal DOs
euploid? aneuploid? (broken into)
monosomy leads to?
mosaicism? common in what chromosome?
chromosomal DOs
ring chromosome?
inversion? (types)
Isochromosome?
translocation? normal type?
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Chromosomal DOs
important translocation? (aka)
what is it? occurrence?
can cause?
number of chromosomes here?
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Trisomy 21
symptoms?
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most common chromosomal DO? major cause of?
US incidence? type of trisomy? other type?
strong influence of incidence?
1% are?
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trisomy 21
clinical features?
IQ?
many have what disease? (percentage)
higher risk for? (2)
abnormal what leads to what?
trisomy 21 and what are the other two trisomy we should know?
Chr 22q11.2 deletion syndrome
incidence? often what happens?
signs/symptoms?
two types? how do they differ?
digeorge vs velocardiofacial
differences?
DiGeorge syndrome probe?
what is it?
what would you see?
sex chromosome DOs
how common?
tolerance to imbalance of sex chr?
2 unique factors to sex chromosomes?
explain what that is?
what histo can be seen?
lyonization
what chromosome is turned into?
sex chromosome DOs
inactive X are in what state?
what determines male sex? regardless of?
sex chro disorders cause?
many recognized when?
what correlates with mental retardation?
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47, XXY aka?
what is it defined as? classic pattern?
incidence? most common cause of?
Clinical?
increased risk for? (4) fertility?
much greater risk for?
XXX, XXY, XO and barr bodies?
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45 X characterized by what? types?
incidence? most common what?
most common type? partial monosomy?
mosaic?
what causes neck webbing and looseness of skin? caused by?
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turner syndrome: higher risk for? what is important due to mortality in children?
clinical?
T syndrome most important cause of?
ovaries?
50% have?
in minority of patients?
True hermaphrodite?
pseudohermaphrodite?
Single-gene disorders with nonclassic inheritance
4 categories?
Trinucleotide repeat DOs?
what 2 do you super need to know? what repeat? what protein? what gene?
Trinucleotide-repeat mutations
is important for what type of disorders?
3 principles? type of nucleotides? expand depends strongly on? how many key mechanisms?
the mechanisms? the types? what disease?
histo morphologic hallmark?
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CGG disease? mechanism?
GAA?
CAG?
where are these located?
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second most common genetic cause of mental retardation? mutation in what? what repeats? how many repeats? this causes?
males or females more?
phenotype? most distinctive feature?
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fragile X syndrome
carrier males? transmit to? then?
affected females?
risk on where in pedigree chart?
what does anticipation mean?
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fragile X pedigree
shows what trend?
FMRP does what?
reduction in it results in?
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characterized by progressive movement disorders and dementia caused by degen of striatal neurons?
AR/AD/X?
type of movements? leads to? type of repeat? what gene? has what trend?
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Mutations in Mitochondrial genes
what holds mito in reproduction?
mtDNA derived from?
Heteroplasmy?
has what effect to allow dysfunction to arise?
prototype of mtDNA disorder? manifests as? what age? also seen?
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LHON pedigree what does it look like?
type of vision loss?
expression uniform or different? why?
genomic imprinting
this does what?
maternal? paternal?
imprinting occurs where? when?
3 mechanisms? most common? 2nd? least?
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prader-wili syndrome? characterized by?
angelman syndrome? difference from prader?
prader-willi/angelman
which chromosome has deletion for either?
