genetics

Question 1

amplification of a sequence of three nucleotides

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

Answer 1

trinucleotide-repeat mutation

huntington’s disease
myotonic dystrophy
friedreich ataxia
fragile x syndrome

Question 2

mendelian disorder that has incomplete penetrancewith variable expressivity

Answer 2

autosomal dominant disorders

Question 3

largest category in mendelian disorder

mostly inborn errors of metabolism

usually seen in consanguinity

Answer 3

autosomal recessive disorders

Question 4

all enzymatic mutation are autosomal recessive EXCEPT

Answer 4

acute intermittent porphyria which is a autosomal dominant

Question 5

all mucopolysaccharide are autosomal recessive EXCEPT

Answer 5

Hunter syndrome which is a X linked recessive

Question 6

all glycogen storage disease are autosomal recessive EXCEPT

Answer 6

Faber

Question 7

what are the x linked recessive disorder memorize

Answer 7

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

Question 8

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

Answer 8

ALL

Question 9

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

Answer 9

fibrillin-1

Question 10

defect in the synthesis of fibrillar collagen

Answer 10

Ehler’s danlos

Question 11

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

Answer 11

type 3 hyper mobility

Question 12

what is deficient in tay-sachs disease

Answer 12

hexosaminidase alpha subunit deficiency

predominant cns and retinal involvement

Question 13

what accumulates in tay-sachs

Answer 13

GM2 ganglioside -onion skin lesion, whorled configuration

chery red spot in macula

Question 14

what is deficient in niemann-pick disease

Answer 14

spengomyelinase

Question 15

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

Answer 15

type A

Question 16

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

Answer 16

type B

Question 17

lysosomal storage dx with zebra bodies

Answer 17

niemann pick

Question 18

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

Answer 18

np has hepatosplenomegaly

Question 19

what accumulates in np

Answer 19

sphingomyelin

Question 20

most common lysosomal storage disease

Answer 20

gaucher -tissue paper appearance

Question 21

gaucher cells when accumulates in the brain

Answer 21

Virchow robin spaces

Question 22

deficiency in gaucher

Answer 22

glucocerebrosidase

accumulation of glucocerebrosites

Question 23

balloon cells are found in?

Answer 23

mucopolysaccharidoses

Question 24

type of glycogen storage disease involving the heart

Answer 24

type 2 Pompe alpha 1,4 glucosidase

Question 25

type of glycogen storage disease with glycogen debranching enzyme deficiency

Answer 25

type 3 Cori

Question 26

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

Answer 26

type 6 Hers disease

Question 27

type of glycogen storage disease with branching enzyme deficiency

Answer 27

Type 4 andersen, infantile hypotonia

Question 28

type of glycogen storage disease muscle glycogen phosphorylase enzyme deficiency

Answer 28

type 5 McArdles muscle cramps and weakness on exercise

Question 29

glycogen storage disease type 1

Answer 29

von gierkes. glucose 6 phosphatase def. severe hypoglycemia

Question 30

lack of homogenistic oxidase leading to black urine

Answer 30

alkaptonuria

Question 31

enzyme that converts homogenistic acid to methyacetoacetic acid

Answer 31

homogenistic oxidase

Question 32

blue black pigments in nose, ears, cheeks | deposits also in articular cartilages

Answer 32

ochronosis in alkaptonuria

Question 33

problem in tyrosine metabolism

Answer 33

alkaptonuria

Question 34

how many chromosomes in normal karyotype

Answer 34

46

Question 35

most common chromosomal syndrome

Answer 35

downs trisomy 21

Question 36

``` trisomy 21 simian crease mr endocardial cushion defect duodenal atresia hirschprnug all alzheimer ```

Answer 36

downs

Question 37

expected result in quadruple screen for downs? utz finding

Answer 37

increase bhcg and inhibin a decrease afp, estriol increased nuchal translucency

Question 38

trisomy 18 ``` clenched hands with overlapping fingers micrognathia rocker bottom feet vsd early death ```

Answer 38

edwards

Question 39

``` trisomy 13 cleo lip palate polydactyl holoprocencephaly rocker bottom feet vsd ```

Answer 39

patau

Question 40

catch 22

Answer 40

digeorge syndrome ``` cardiac defect abnormal facies thymic aplasia cleft palate hypocalcemia 22q11.2 deletion ```

Question 41

47 Xxy male hypogonadism testicilar atrophy enuochoid body shape

Answer 41

klinefelter

Question 42

``` no barr body streak ovary shield chest webbed neck coarctation of aorta ``` xo

Answer 42

turner

Question 43

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

Answer 43

williams

Question 44

large mandible,ears, testis | 2nd most common cause of mr

Answer 44

Fragile X syndrome

Question 45

paternal chromosome 15 | obesity hyperhagia

Answer 45

praderwilli

Question 46

maternal chromosome 15 marionette happy puppet

Answer 46

Angelman

Question 47

mutation in single genes with a large defect

Answer 47

mendelian