cytogenetics 2

Question 1

loss of material

Answer 1

deletion

Question 2

gain of material

Answer 2

duplication

Question 3

exchange of material between two or more chromosomes

Answer 3

translocation

Question 4

alteration within a chromosome

Answer 4

inversion

Question 5

many defined before the genes invovled known

Answer 5

microdeletion

Question 6

microdeletion syndrome

Answer 6

often result of submicroscopic deletion of more than one gene from chormosome

Question 7

phenotype correlates with specific genes lost

Answer 7

bigger deletions, more features

Question 8

microdeletion syndrome needs ____ to diagnose

Answer 8

FISH

Question 9

microdeletion syndromes are more often _____, but can be _____

Answer 9

sporadic but can be dominant

Question 10

Di George

Answer 10

microdeletion disorder

Question 11

williams

Answer 11

microdeletion disorder

Question 12

miler-dieker syndrome

Answer 12

microdeletion disorder

Question 13

46,XX,del(15)(q11.2q13)

Answer 13

Prader-Willi/Angelman deletion

Question 14

multiple genes are physically ______ on the chromosome

Answer 14

contiguous

Question 15

VCFS

Answer 15

microdeletion disorder

Question 16

exchange of material between 2 or more chromsomes

Answer 16

translocation

Question 17

translocations may be

Answer 17

balanced or unbalanced

Question 18

balanced translocations

Answer 18

identified by chance

Question 19

unbalanced translocation

Answer 19

will have combination of monosomy and trisomy

Question 20

Band assignment

Answer 20

numbering system based on landmarks and large the number further away from centromere

Question 21

familial translocations

Answer 21

present at birth in some or all of cells in body and most are unique to a family

Question 22

t(11;22)(q23;q11.2)
t(4;8)(p16;p23)
t(4;11)(p16.2;p15.4)

Answer 22

three constitutional familial recurrent

Question 23

occurs between acrocentric chromosomes (13/14/15/21/22)

Answer 23

robertsonian translocation

Question 24

robertsonian translocations

Answer 24

results in loss of non-critical genes in the short arm regions of the chromosomes involved

Question 25

45,XX,der(13;14)(q10;q10)

Answer 25

robertsonian translocation

Question 26

robertsonian translocation (2)

Answer 26

(1) count is decreased to 45 | (2) q10 means that the creak is in the centromere and the long arm is present

Question 27

balanced or unbalanced: 46, XY, t(1;8)(p22;q24)

Answer 27

balanced

Question 28

balanced or unbalanced: 46, XX, der(8)t(1;8)(p22;q24)

Answer 28

unbalances der(8) abnormal chromosome

Question 29

balanced or unbalanced: 45,WW,der(13;14)(q10;q10)

Answer 29

balanced-- Robertsonian

Question 30

When there is an abnormal X

Answer 30

abnormal X inactivated if has XIST

Question 31

when there is a translocation between X and autosome

Answer 31

normal x inactivated

Question 32

when there is a unbalanced x translocation

Answer 32

abnormal x inactivated

Question 33

pericentric

Answer 33

around centromere inversion

Question 34

paracentric

Answer 34

outside centromere

Question 35

not present at birth

Answer 35

acquired changes

Question 36

cancer associated translocations like

Answer 36

t(9;22)

Question 37

philadelphia chromosome

Answer 37

der(22)

Question 38

t(9;22)

Answer 38

balanced translocation

Question 39

presence of additional karyotype changes

Answer 39

clonal evolution

Question 40

clona evolution is associated with

Answer 40

disease progression

Question 41

complex cancer changes affects cells in the

Answer 41

bone marrow

Question 42

why do translocations recur in cancer?

Answer 42

breakpoints= location of oncogenes- genes involved in driving cell cycle which result in production of abnormal protein that cannot be regulated/overproduction of a normal protein

Question 43

why do deletions happen in cancer?

Answer 43

loss of one copy of gene and possible inactivation of the other copy removes cell cycle control point

Question 44

constitutional trisomy

Answer 44

13,18,21

Question 45

acquired trisomy

Answer 45

any

Question 46

constitutional trisomy origin

Answer 46

meisosis

Question 47

acquired trisomy origin

Answer 47

mitosis

Question 48

constitutional monosomy

Answer 48

X

Question 49

acquired monosomy

Answer 49

any

Question 50

constitutional translocation balanced

Answer 50

no impact on phenotype; mostly unique to family

Question 51

acquired translocation balanced

Answer 51

diagnostic, recurrent

Question 52

constitutional translocation unbalanced

Answer 52

abnormal phenotype

Question 53

acquired translocation unbalanced

Answer 53

normal phenotype

Question 54

constitutional where

Answer 54

majority of cells

Question 55

acquired where

Answer 55

site of cancer