Conditions Q3

Question 1

Condition caused by extra chromosome 21

Answer 1

Down syndrome

Question 2

Abnormal chromosome in down syndrome

Answer 2

Trisomy 21

Question 3

Condition caused by a 22q11.2 chromosome deletion

Answer 3

DiGeorge syndrome

Question 4

Condition that be detected using single gene sequencing on the NF1 gene

Answer 4

Neurofibromatosis type I

Question 5

Type of gene sequencing best used to detect neurofibromatosis type I

Answer 5

Single gene sequencing

Question 6

Type of gene sequencing best used to detect Hereditary breast cancer

Answer 6

Multigene panel sequencing

Question 7

X-linked recessive disorder that is the most common type of muscular dystrophy occurring in childhood

Answer 7

Duchenne muscular dystrophy (DMD)

Question 8

Inheritance pattern of Duchenne muscular dystrophy

Answer 8

X-linked recessive

Question 9

Expression of Duchenne muscular dystrophy in different sexes

Answer 9

Only males express the disease
Females are carriers

Question 10

Multifactorially determined disease where folic acid taken prior to conception lowers risk and teratogens elevate risk

Answer 10

Neural tube defects

Question 11

Neural tube defects exhibit what type of disorder?

Answer 11

Multifactorially determined disorder

Question 12

Condition caused by monosomy X

Answer 12

Turner syndrome

Question 13

Chromosomal abnormality in Turner syndrome

Answer 13

Monosomy X

Question 14

Mutation involved in cystic fibrosis

Answer 14

Deletion of Phe in first nucleotide binding domain of CFTR

Question 15

Cholera toxin binds to this

Answer 15

Ganglioside Gm1 in cell membrane

Question 16

Cholera toxin binding causes:

Answer 16

Phosphorylation of CFTR, causing the channel to always be open in the intestinal mucosa

Question 17

Cystic fibrosis has what effect on Cl- secretion?

Answer 17

Decreased Cl- secretion; increasing H2O absorption

Question 18

Cholera has what effect on Cl- secretion?

Answer 18

Increased Cl- secretion; decreased H2O absorption

Question 19

Molecule that is produced in excess during a small intestine bacterial overgrowth (SIBO)

Answer 19

NH3

Question 20

Small intestine bacterial overgrowth (SIBO) has what effect on pH?

Answer 20

pH Increased
(NH3 produced acts as base, reducing [H+])

Question 21

COPD has what effect on pH?

Answer 21

Decreased blood pH
(Poor exchange of CO2 for oxygen in the lungs, so blood [CO2] is high, producing more H+)

Question 22

Kidney stones may be formed by reduced transport of:

Answer 22

Cystine

Question 23

Treatment for cystinuria

Answer 23

Dietary restriction of cysteine and methionine, increase fluid intake

Question 24

Condition caused by mutations in a1 or a2 chains of type I collagen

Answer 24

Osteogenesis imperfecta

Question 25

Condition caused by Vitamin C deficiency, altering collagen formation

Answer 25

Scurvy

Question 26

Condition involving hyperextensible skin, hypermobile joints, bruising/bleeding tendencies

Answer 26

Ehlers-Danlos syndrome

Question 27

Autosomal recessive disease caused by a point mutation of Glu to Val

Answer 27

Sickle cell anemia

Question 28

Sickle cell anemia inheritance pattern

Answer 28

Autosomal recessive

Question 29

Heterozygotes with the allele for this condition are protected from malaria

Answer 29

Sickle cell anemia

Question 30

Conditions caused by accumulation of intra- and extracellular bundles and filaments that form plaques

Answer 30

Amyloid disease, Alzheimer’s disease

Question 31

Major component of plaques

Answer 31

Beta amyloid

Question 32

Condition caused by a higher number of CAG trinucleotide repeats

Answer 32

Huntington’s disease

Question 33

Condition that exhibits genetic anticipitation

Answer 33

Huntington’s disease

Question 34

Treatment for carbon monoxide

Answer 34

Treat with O2 to displace CO
Very high pressure O2

Question 35

Genetic deficiency of cytochrome b5 reductase can exhibit this inheritance

Answer 35

Autosomal recessive

Question 36

Condition due to the cytochrome b5 reductase/methemoglobin reductase system not being at adult levels until age 4

Answer 36

Blue baby syndrome

Question 37

Blue baby syndrome is due to this system not being at adult levels

Answer 37

Cytochrome b5 reductase/methemoglobin reductase system

Question 38

Rare X-linked recessive metabolic disorder caused by a defective ATP7A, resulting in impaired copper absorption/transport

Answer 38

Menkes disease

Question 39

Treatment for Menkes disease

Answer 39

Copper histidine