Misc. 1

Question 1

What does GINA protect?

Answer 1

• employment

- health insurance

Question 2

What does GINA not protect?

Answer 2

• life insurance
• disability
• long term care

Question 3

For GINA, what is not considered genetic info?

Answer 3

• sex
• age
• routine tests
• DNA of infectious agents
• pre-existing conditions (even if they are genetic)

Question 4

For HIPAA, what geographical identifiers are protected?

Answer 4

anything smaller than state (ie county, zip code, etc)

Question 5

Retinitis pigmentosa

• description
• cause

Answer 5

• abnormalities in rods, cones, or retinal pigment epithelium lead to progressive visual loss in early adulthood
• caused by mutations in >50 genes

Question 6

Age-related macular degeneration

• description
• cause

Answer 6

• vision loss late in life

- multifactorial; many genes may be implicated

Question 7

What is the most common UPD mechanism?

Answer 7

trisomic rescue

Question 8

What arm(s) do pericentric inversions involve?

Answer 8

both

Question 9

What arm(s) do paracentric inversions involve?

Answer 9

one

Question 10

What is an example of a common pericentric inversion that is a polymorphism?

Answer 10

inv(9)(p11q13)

Question 11

Does it matter from which parent the extra material in triploidy comes from?

Answer 11

yes

Question 12

What is the recurrence risk for a reciprocal translocation when a parent is a carrier? Exceptions?

Answer 12

~20%

but 9p and distal 4p and 5p hvae a higher recurrance risk of ~30%

Question 13

What is pachytene?

Answer 13

crossing over

Question 14

What percentage of inversions are inherited?

Answer 14

90%

Question 15

For what type of cancer does external beam radiation increase risk?

Answer 15

osteosarcoma

Question 16

What isolated fetal ultrasound finding is most likely due to a chromosomal abnormality?

Answer 16

cystic hygroma

Question 17

What percentage of balanced reciprocal translocations are inherited?

Answer 17

70%

Question 18

Name the trinucleotide repeat disorders

Answer 18

• Huntington
• SCA
• DRPLA
• Kennedy
• Fragile X
• Friedreich’s ataxia
• Myotonic dystrophy

Question 19

What is the Hardy-Weinberg equation?

Answer 19

p^2 + 2pq + q^2 = 1

Question 20

Name 2 conditions with overgrowth

Answer 20

• Sotos

- Beckwith-Wiedemann

Question 21

Name 3 conditions with dysmorphic features but normal intellect

Answer 21

• Beckwith-Wiedemann
• Crouzon
• Saethre-Chotzen

Question 22

Name 5 conditions with absent speech

Answer 22

• Phelan-McDermid
• Rett
• 1p36 deletion
• Angelman
• Mowat-Wilson

Question 23

Name 2 conditions with sparse hair findings

Answer 23

• Pallister-Killian

- Sotos

Question 24

Name 2 conditions with self-injurious behavior

Answer 24

• 1p36 deletion

- Smith-Magenis

Question 25

Name 2 conditions with a friendly demeanor

Answer 25

- Angelman | - Williams

Question 26

Name 3 conditions with regression / loss of milestones

Answer 26

- Tay-Sachs - Rett - Menkes

Question 27

Name 2 conditions associated with ATP7_ genes

Answer 27

- Menkes | - Wilson

Question 28

heritability - definition

Answer 28

the fraction of total phenotypic variation of a trait that is caused by genes

Question 29

heritability - equation

Answer 29

(%MZ concordance - %DZ concordance) / (100 - %DZ concordance)

Question 30

Which chromosomes have imprinted genes?

Answer 30

- 6 (neonatal diabetes) - 7 (growth restriction) - 11 (Beckwith/Russel) - 14 (skeletal anomales) - 15 (Prader/Angel)

Question 31

How many genes does mitochondrial DNA encode?

Answer 31

37

Question 32

Which organs are most commonly effected by mitochondrial mutations?

Answer 32

those with high energy demands: - muscle - heart - brain

Question 33

Are the effects of monosomy or trisomy typically more severe?

Answer 33

monosomy

Question 34

What is a Robertsonian translocation?

Answer 34

A reciprocal translocation where the long arms of 2 acrocentric chromosomes fuse at their centromeres

Question 35

Name 6 syndromes resulting from mitochondrial mutations

Answer 35

- Leber's optic atrophy - MELAS - MERRF - Kearns-Sayre - Pearson - Leigh

Question 36

What percentage of cases of Down syndrome are due to 47 chromosomes?

Answer 36

95%