Microarrays

Question 1

ISCN: add

Answer 1

additional material of unknown origin

Question 2

ISCN: chi

Answer 2

chimera

two cell lines identified as begin from two diff. individuals

Question 3

ISCN: del

Answer 3

deletion

Question 4

ISCN: der

Answer 4

derivative

Question 5

ISCN: dup

Answer 5

duplication

Question 6

ISCN: fra

Answer 6

fragile site

Question 7

ISCN: idic

Answer 7

isodicentric

Question 8

ISCN: ins

Answer 8

insertion

Question 9

ISCN: inv

Answer 9

inversion

Question 10

ISCN: mar

Answer 10

marker

Question 11

ISCN: mat (or pat)

Answer 11

maternal/patern origin

Question 12

ISCN: mos

Answer 12

mosaic

Question 13

ISCN: pter, qter

Answer 13

terminal ends of the short and long arms

Question 14

ISCN: t

Answer 14

translocation

Question 15

FISH type: ish

Answer 15

in situ hybridization

metaphase

Question 16

FISH type: nuc ish

Answer 16

in situ hybridization

interphase

Question 17

Limitations of karyotype/G-banding?

Advantages?

Answer 17

need actively dividing cells
low resolution

eval entire genome
can detect balanced translocations

Question 18

Limitations of FISH? Advantages?

Answer 18

only eval specific region of the probe
need to determine up front which regions will be FISHed

don’t need dividing cells
higher resolution than G-banding
faster turnaround time than G-banding

Question 19

Limitations of microarray? Advantages?

Answer 19

• cannot detect balanced rearrangements
• detect abnormalities only if the region is included in the array
• higher yield of VUS
• low-level mechanisms may not be detected
• cannot detect free vs. translocation trisomy
• no active dividing cells
• high resolution
• more accurate size and location of abnormalities
• customizable
• can detect loss of heterozygosity

Question 20

CMA is another name for:

Answer 20

microarray

Question 21

Microarrays are great for detecting:

Answer 21

copy number variants

some limitations if additions are elsewhere

Question 22

What types of probes are used in microarray?

Answer 22

oligonucleotides

SNPs
-helpful for detecting regions of LOH

Question 23

What can LOH imply?

Answer 23

consanguinity

Question 24

What does it mean if a result is cryptic?

Answer 24

can be seen with FISH and microarray but not with G-banding

Question 25

They loci targetted by microarray are mostly (nonpolymorphic/polymorphic).

Answer 25

nonpolymorphic