genetic variation and disease

Question 1

how is a chromosome recognised

Answer 1

centromere in between short-p and long-q telomere

Question 1

total number of chromosmes

Answer 1

46

Question 2

which arm doesnt rlly matter

Answer 2

short arm

Question 3

balanced chromsome rearrangement

Answer 3

all chromosome material is present just in a different arrangement

Question 4

unbalanced chromosme rearrangement

Answer 4

extra or missing chormosomal material
usually 1 or 3 copies of same genome

Question 5

aneuploidy

Answer 5

whole exrta or missing chromosome

Question 6

translocation

Answer 6

rearrangement of chromosomesnseet

Question 7

insertions/ deletions

Answer 7

missing or duplicated material

Question 8

downsydrome

Answer 8

47XY +21

Question 9

robertsonian translocation

Answer 9

two accrocentric chromosomes stuck end to end

Question 10

trisomy 21

Answer 10

downsydorme

Question 11

trisomy 14

Answer 11

miscarriage

Question 12

edwards syndrome

Answer 12

47XY + 18

Question 13

turner syndrome

Answer 13

45X

Question 14

why is x chromosome aneuploidy better tolerated

Answer 14

due to x inactivation

Question 15

FISH

Answer 15

Uses fluorescent probes that bind only to parts of a nucleic acid sequence with a high degree of sequence complementarity
For finding specific features

Question 16

aCGH

Answer 16

• 1st line chromosome test
• Detects missing/duplicated pieces of chromosome
• Find polymorphisms
• Does not detect balanced rearrangements
• whole chromosme aneuploidies

Question 17

mosaicism

Answer 17

when a person has two geentically different sets of cells in their body

Question 18

PCR

Answer 18

rapid amplification of DNA

Question 19

first lin efor chromosome imbalance

Answer 19

aCGH

Question 20

what doesnt detect balanced rearrangement

Answer 20

aCGH

Question 21

autoimmune disease associated with single gene defect

Answer 21

IPEX