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Patho/IM > genetics > Flashcards

genetics Flashcards

1
Q

amplification of a sequence of three nucleotides

Increasing severity of clinical disease in each successive generation (anticipation)

A

trinucleotide-repeat mutation

huntington’s disease
myotonic dystrophy
friedreich ataxia
fragile x syndrome

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2
Q

mendelian disorder that has incomplete penetrancewith variable expressivity

A

autosomal dominant disorders

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3
Q

largest category in mendelian disorder

mostly inborn errors of metabolism

usually seen in consanguinity

A

autosomal recessive disorders

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4
Q

all enzymatic mutation are autosomal recessive EXCEPT

A

acute intermittent porphyria which is a autosomal dominant

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5
Q

all mucopolysaccharide are autosomal recessive EXCEPT

A

Hunter syndrome which is a X linked recessive

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6
Q

all glycogen storage disease are autosomal recessive EXCEPT

A

Faber

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7
Q

what are the x linked recessive disorder memorize

A 
Brutons agammaglobulinemia
wiskott aldrich
fabrys
G6PD
ocular albinism
lesch nyhan
duchennes
huntesr
hemophilia
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8
Q

how many of the offsprings of mother with a mitochondrial inheritance dx manifests the disease

A

ALL

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9
Q

what is the inherited defect in an extra cellular glycoprotein found in Marfan

A

fibrillin-1

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10
Q

defect in the synthesis of fibrillar collagen

A

Ehler’s danlos

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11
Q

most common type of collagen defect found in Ehler’s danlos

A

type 3 hyper mobility

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12
Q

what is deficient in tay-sachs disease

A

hexosaminidase alpha subunit deficiency

predominant cns and retinal involvement

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13
Q

what accumulates in tay-sachs

A

GM2 ganglioside -onion skin lesion, whorled configuration

chery red spot in macula

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14
Q

what is deficient in niemann-pick disease

A

spengomyelinase

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15
Q

severe infantile form with extensive neurologic involvement is what type of niemann-pick?

A

type A

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16
Q

organomegly with no cns involvement is what type of niemann pick?

A

type B

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17
Q

lysosomal storage dx with zebra bodies

A

niemann pick

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18
Q

both niemann pick and tay sachs have cherry red spot in macula with mental retardation. what is the difference?

A

np has hepatosplenomegaly

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19
Q

what accumulates in np

A

sphingomyelin

20
Q

most common lysosomal storage disease

A

gaucher -tissue paper appearance

21
Q

gaucher cells when accumulates in the brain

A

Virchow robin spaces

22
Q

deficiency in gaucher

A

glucocerebrosidase

accumulation of glucocerebrosites

23
Q

balloon cells are found in?

A

mucopolysaccharidoses

24
Q

type of glycogen storage disease involving the heart

A

type 2 Pompe alpha 1,4 glucosidase

25
Q

type of glycogen storage disease with glycogen debranching enzyme deficiency

A

type 3 Cori

26
Q

type of glycogen storage disease with hepatic glycogen phosphorylase enzyme deficiency with hypoglycemia and cirrhosis

A

type 6 Hers disease

27
Q

type of glycogen storage disease with branching enzyme deficiency

A

Type 4 andersen, infantile hypotonia

28
Q

type of glycogen storage disease muscle glycogen phosphorylase enzyme deficiency

A

type 5 McArdles muscle cramps and weakness on exercise

29
Q

glycogen storage disease type 1

A

von gierkes. glucose 6 phosphatase def. severe hypoglycemia

30
Q

lack of homogenistic oxidase leading to black urine

A

alkaptonuria

31
Q

enzyme that converts homogenistic acid to methyacetoacetic acid

A

homogenistic oxidase

32
Q

blue black pigments in nose, ears, cheeks

deposits also in articular cartilages

A

ochronosis in alkaptonuria

33
Q

problem in tyrosine metabolism

A

alkaptonuria

34
Q

how many chromosomes in normal karyotype

A

46

35
Q

most common chromosomal syndrome

A

downs trisomy 21

36
Q 
trisomy 21
simian crease
mr
endocardial cushion defect
duodenal atresia
hirschprnug
 all
alzheimer
A

downs

37
Q

expected result in quadruple screen for downs?

utz finding

A

increase bhcg and inhibin a
decrease afp, estriol

increased nuchal translucency

38
Q

trisomy 18

clenched hands with overlapping fingers 
micrognathia
rocker bottom feet
vsd
early death
A

edwards

39
Q 
trisomy 13
cleo lip palate
polydactyl 
holoprocencephaly
rocker bottom feet
vsd
A

patau

40
Q

catch 22

A

digeorge syndrome

cardiac defect
abnormal facies
thymic aplasia
cleft palate
hypocalcemia
22q11.2 deletion
41
Q

47 Xxy

male hypogonadism
testicilar atrophy
enuochoid body shape

A

klinefelter

42
Q 
no barr body
streak ovary
shield chest
webbed  neck
coarctation of aorta

xo

A

turner

43
Q 
micro deletion of long arm of chromosome 7
elfin facies
mr
hypercalcemia
well developed verbal skills
extreme friendliness with  strangers
A

williams

44
Q

large mandible,ears, testis

2nd most common cause of mr

A

Fragile X syndrome

45
Q

paternal chromosome 15

obesity hyperhagia

A

praderwilli

46
Q

maternal chromosome 15
marionette
happy puppet

A

Angelman

47
Q

mutation in single genes with a large defect

A

mendelian

Patho/IM (5 decks)

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