ALL DISEASES

Question 1

genetic mutation leads to a deficiency of beta glucosidase; liver and spleen enlarge and glycosphingolipids accumulate; these cells appear in bone marrow

Answer 1

gaucher disease

Question 2

gangliosides (types 1 & 2) genetic mutation leads to a deficiency of hexosaminidase resulting in severe mental retardation with hearing and vision loss; accumulation of gangliosides in the brain

Answer 2

tay-sachs

Question 3

genetic mutation leads to deficiency of arylsulfatase A allowing build up glycosphingolipid in white matter of brain and cord. treatment is supportive or bone marrow transplant (affects CNS)

Answer 3

metachromatic leukodystrophy

Question 4

group of disorders involving genetic mutations led to a deficiency of alpha iduronidase; results in lack of collagen formation in several systems death occurs by age 8

Answer 4

hurler syndrome

Question 5

caused by a deleted region on the short arm of chromosome 5

Answer 5

cri-du-chat syndrome

Question 6

trisomy 21 aneuploidy

Answer 6

down syndrome

Question 7

extra X chromosome (aneuploidy)

Answer 7

klinefelters

Question 8

one X chromosome (monosomy)

Answer 8

turners

Question 9

caused translocation t (9;22)

Answer 9

Chronic Myelogenous Leukemia (CML)

Question 10

caused by maternal isochromosome 15 formation

Answer 10

angelman

Question 11

disease caused by nucleotide excision repair

Answer 11

xeoderma pigmentosum

Question 12

disease caused by coupling of nucleotide excision repair to transcription

Answer 12

cockayne syndrome

Question 13

caused by affected ATM protein, a protein kinase activated by double strand DNA breaks

Answer 13

Ataxia Telangiectasia (AT)

Question 14

caused by affects homologous recombination

Answer 14

BRCA 1