Rush Autosomal Recessive

Question 1

characteristics of autosomal recessive

Answer 1

two recessive to make phenotype
parents are normal but siblings are not

Question 2

characteristics of autosomal recessive across two heterozygous parents

Answer 2

25% chance
more uniform expression
complete penetrance
early onset
enzymatic defects

Question 3

autosomal recessive disorders in metabolic

Answer 3

cystic fibrosis
galactosemia
wilsons disease
hemochromatosis
glycogen storage disease

Question 4

autosomal recessive disorders in hematopoietic

Answer 4

sickle cell anemia
thalassemias

Question 5

autosomal recessive disorders in endocrine

Answer 5

cingenital adrenal hyperplasia

Question 6

autosomal recessive disorders in skeletal

Answer 6

ehler danlos
alkaptonuria

Question 7

autosomal recessive disorders in nervous

Answer 7

neurogenic muscular atrophies
friedeich ataxia
spinal muscular atrophy

Question 8

defect in a subunit hemosaminidase A
accumulation of GM2 ganglioside in enurons and retina

Answer 8

Tay Sachs

Question 9

stains used for tay sach

Answer 9

oil red o
sudan black

Question 10

h&e stain shows what in tay sacks

Answer 10

ballooned nurons w cyto vacuoles

Question 11

feature of retina in tay sachs

Answer 11

cheery red spot macula

Question 12

microscopic feature of tay sachs

Answer 12

enlarged cells via lysosome disintention
foamy cytoplasms numerous vacuoles
zebra bodies
looks the same in neurons

Question 13

encorges secondsry lysosomes rhat contain bodies resembling concentric lamellayed myelin figures

Answer 13

zebra bodies

Question 14

sphingomyelinase deficiency causing accumulation if sphingomyelin

Answer 14

niemann pick dx A and B

Question 15

gross morphology of niemann pick

Answer 15

hepatomegaly
splenomegaly
lymphomegaly

Question 17

glucocerebroside deficiency or B glucosidase deficiency

Answer 17

gauchers dx

Question 18

gaucher comminly develops into what

Answer 18

parkinsons

Question 19

gross morph of gaucher

Answer 19

splenomegaly
lymphadenopathy
bone erosion

Question 20

gaucher microscopic stain and feature

Answer 20

PAS+ stain
crumpled tissue paper

Question 21

amino acid metabolism of phenylalanine and tyrosine

homogenistic acid oxidase deficiency

Answer 21

alkaptonuria

Question 22

alkaptonuria features

Answer 22

alkaline brown black urine
inc homogenistic acid
arthritis
orchonosis (dark blue bruises)

Question 23

x linked recessive disorder for muscoloskeletal

Answer 23

duchenne muscular dystrophy

Question 24

x linked recessive disorder for blood

Answer 24

hemophilia a and b
chronic granulomatous dx
g6pg deficiency

Question 25

x linked recessive disorder for immune

Answer 25

agammaglobilinemia wiskott aldrich

Question 26

x linked recessive disorder for metabolic

Answer 26

diabetes insipidus lesch nyhan synd

Question 27

x linked recessive disorder for nervous

Answer 27

fragile x syndrome

Question 28

rate of x linked dominant for hetero female and normal male

Answer 28

50% sons and 50% daughters +

Question 29

x linked dominant offspring chances in male with affected male and normal female

Answer 29

all daughters positive all sons negatuve