genetic diseases

Question 1

disorders with multifactorial inheritance (2)

Answer 1

cleft lip/palate

pyloric stenosis

Question 2

heart defect associated with trisomy 21

Answer 2

AV canal

Question 3

most common cause of trisomy 21

Answer 3

non-disjunction from mother

Question 4

paternal cause of trisomy 21

Answer 4

robertsonian translocation (long arm of 21 onto 14 or 22)

Question 5

defect in marfan syndrome

Answer 5

fibrillin-1 (scaffolding for elastin)

Question 6

defect in EDS

Answer 6

collagen, type depends on which EDS

Question 7

EDS type 4

Answer 7

type III procollagen

Question 8

heterozygotes vs. homozygotes for familial hypercholesterolemia

Answer 8

hetero- disease in 40s/50s

homo- disease in teens-20s

Question 9

most common genetic defect in CF

Answer 9

DF508 (Cl transporter)

Question 10

tay-sachs gene

Answer 10

HEXA

Question 11

tay-sachs enzyme

Answer 11

hexosaminidase A

Question 12

accumulates in tay-sachs

Answer 12

GM2 gangliosides in lysosomes of neurons

Question 13

sandhoff disease

Answer 13

HEXA and HEXB

Question 14

Niemann-Pick genes

Answer 14

NPC1, NPC2, SMPD1

Question 15

Niemann-Pick enzyme

Answer 15

sphingomyelinase

Question 16

accumulates in Niemann-Pick

Answer 16

sphingomyelin in neurons, liver, spleen, bone marrow, others

Question 17

characteristic histology for Niemann-Pick

Answer 17

concentric, lamented myelin bodies on EM

Question 18

Gaucher enzyme

Answer 18

glucocerebrosidase

Question 19

accumulates in Gaucher

Answer 19

glucocerebroside in WBCs, RBCs in bone marrow, spleen, liver

Question 20

3 forms of gaucher

Answer 20

infantile (II)- severe
juvenile (III)- moderate
Adult (I)- mild

Question 21

Hurler

Answer 21

autosomal recessive, absent a-L-iduronidase

Question 22

Hunter

Answer 22

X-linked, absent a-L-iduronidase

Question 23

Fabry disease enzyme

Answer 23

a-galactodisase

Question 24

accumulates in Fabry disease

Answer 24

ceramide trihexoside

Question 25

Fabry disease symptoms

Answer 25

peripheral neuropathy angiokeratomas cardiac and renal disease

Question 26

to remember glycogen storage diseases

Answer 26

Very Poor Carbohydrate Metabolism A

Question 27

Von Gierke (inheritance, enzyme)

Answer 27

AR | glucose-6-phosphatase

Question 28

von gierke clinical

Answer 28

glucose from glycogen cannot be released from liver= hepatomegaly, severe fasting hypoglycemia

Question 29

Pompe (inheritance, enzyme)

Answer 29

AR | lysosomal a-1,4-glucosidase (acid maltase)

Question 30

Pompe clinical

Answer 30

cardiomegaly (also damages liver, muscle)

Question 31

Cori disease (inheritance, enzyme)

Answer 31

``` AR debranching enzyme (a-1,6-glucosidase) ```

Question 32

cori disease clinical

Answer 32

milder form of von gierke- hepatomegaly, hypoglycemia

Question 33

McArdle disease (inheritance, enzyme)

Answer 33

AR | skeletal mm glycogen phosphorylase

Question 34

McArdle clinical

Answer 34

unable to use glycogen in muscle= cramping, decreased exercise tolerance

Question 35

Andersen disease (inheritance, enzyme)

Answer 35

AR | branching enzyme

Question 36

Andersen disease clinical

Answer 36

liver, cardiac disease

Question 37

defect in Alkaptonuria/ochronosis

Answer 37

lacking homogentisic acid oxidase= unable to degrade phenylalanine and tyrosine

Question 38

Alkaptonuria/ochronosis symptoms

Answer 38

black urine black spots rheumatism

Question 39

NF1 gene

Answer 39

17

Question 40

NF2 gene

Answer 40

22

Question 41

NF1 clinical

Answer 41

cafe au lait spots, sarcomas, lisch nodules

Question 42

NF2 clinical

Answer 42

cafe au lait spots, sarcomas, bilateral schwannomas

Question 43

trisomy 18

Answer 43

rocker bottom feet, low set eats, overlapping fingers

Question 44

trisomy 13

Answer 44

holoprosencephaly, cleft lip/palate, rocker bottom feet, polydactyly

Question 45

klienfelters defects

Answer 45

XXY= mental retardation, gynecomasta, small testes, infertility

Question 46

turner syndrome

Answer 46

XO= streak ovaries, webbed neck, coaractation of the aorta

Question 47

fragile X repeat

Answer 47

CGG on Xq27

Question 48

fragile X clinical

Answer 48

long face, large testicles, mental retardation

Question 49

huntington disease repeat

Answer 49

CAG in huntingtin on chromosome 4

Question 50

friederichs ataxia repeat

Answer 50

GAA on chromosome 9

Question 51

prader-willi

Answer 51

deletion of paternal 15q12

Question 52

angelman

Answer 52

deletion of maternal 15q21