MOD 4 Part 3

Question 1

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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?

Answer 1

Question 2

Question 3

Chromosomal DOs

euploid? aneuploid? (broken into)

monosomy leads to?

mosaicism? common in what chromosome?

Answer 3

Question 4

chromosomal DOs

ring chromosome?

inversion? (types)

Isochromosome?

translocation? normal type?

Answer 4

Question 5

Answer 5

Question 6

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Chromosomal DOs

important translocation? (aka)

what is it? occurrence?

can cause?

number of chromosomes here?

Answer 6

Question 7

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Trisomy 21

symptoms?

Answer 7

Question 8

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most common chromosomal DO? major cause of?

US incidence? type of trisomy? other type?

strong influence of incidence?

1% are?

Answer 8

Question 9

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trisomy 21

clinical features?

IQ?

many have what disease? (percentage)

higher risk for? (2)

abnormal what leads to what?

Answer 9

Question 10

trisomy 21 and what are the other two trisomy we should know?

Answer 10

Question 11

Chr 22q11.2 deletion syndrome

incidence? often what happens?

signs/symptoms?

two types? how do they differ?

Answer 11

Question 12

digeorge vs velocardiofacial

differences?

Answer 12

Question 13

DiGeorge syndrome probe?

what is it?

what would you see?

Answer 13

Question 14

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?

Answer 14

Question 15

lyonization

what chromosome is turned into?

Answer 15

Question 16

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?

Answer 16

Question 17

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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?

Answer 17

Question 18

XXX, XXY, XO and barr bodies?

Answer 18

Question 19

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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?

Answer 19

Question 20

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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?

Answer 20

Question 21

Question 22

True hermaphrodite?

pseudohermaphrodite?

Answer 22

Question 23

Single-gene disorders with nonclassic inheritance

4 categories?

Answer 23

Question 24

Trinucleotide repeat DOs?

what 2 do you super need to know? what repeat? what protein? what gene?

Answer 24

Question 25

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?

Answer 25

Question 26

\*\*\*\* CGG disease? mechanism? GAA? CAG? where are these located?

Answer 26

Question 27

\*\*\*\* 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?

Answer 27

Question 28

\*\*\*\* fragile X syndrome carrier males? transmit to? then? affected females? risk on where in pedigree chart? what does anticipation mean?

Answer 28

Question 29

\*\*\*\*

Answer 29

Question 30

\*\*\*\* fragile X pedigree shows what trend?

Answer 30

Question 31

FMRP does what? reduction in it results in?

Answer 31

Question 32

\*\*\*\* 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?

Answer 32

Question 33

\*\*\*\* 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?

Answer 33

Question 34

\*\*\*\* LHON pedigree what does it look like? type of vision loss? expression uniform or different? why?

Answer 34

Question 35

genomic imprinting this does what? maternal? paternal? imprinting occurs where? when? 3 mechanisms? most common? 2nd? least?

Answer 35

Question 36

\*\*\*\* prader-wili syndrome? characterized by? angelman syndrome? difference from prader?

Answer 36

Question 37

prader-willi/angelman which chromosome has deletion for either?

Answer 37