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Genetics 2 > cytogenetics 2 > Flashcards

cytogenetics 2 Flashcards

exam 2

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1
Q

loss of material

A

deletion

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2
Q

gain of material

A

duplication

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3
Q

exchange of material between two or more chromosomes

A

translocation

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4
Q

alteration within a chromosome

A

inversion

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5
Q

many defined before the genes invovled known

A

microdeletion

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6
Q

microdeletion syndrome

A

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

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7
Q

phenotype correlates with specific genes lost

A

bigger deletions, more features

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8
Q

microdeletion syndrome needs ____ to diagnose

A

FISH

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9
Q

microdeletion syndromes are more often _____, but can be _____

A

sporadic but can be dominant

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10
Q

Di George

A

microdeletion disorder

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11
Q

williams

A

microdeletion disorder

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12
Q

miler-dieker syndrome

A

microdeletion disorder

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13
Q

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

A

Prader-Willi/Angelman deletion

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14
Q

multiple genes are physically ______ on the chromosome

A

contiguous

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15
Q

VCFS

A

microdeletion disorder

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16
Q

exchange of material between 2 or more chromsomes

A

translocation

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17
Q

translocations may be

A

balanced or unbalanced

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18
Q

balanced translocations

A

identified by chance

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19
Q

unbalanced translocation

A

will have combination of monosomy and trisomy

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20
Q

Band assignment

A

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

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21
Q

familial translocations

A

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

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22
Q

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

A

three constitutional familial recurrent

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23
Q

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

A

robertsonian translocation

24
Q

robertsonian translocations

A

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

25
Q

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

A

robertsonian translocation

26
Q

robertsonian translocation (2)

A

(1) count is decreased to 45

(2) q10 means that the creak is in the centromere and the long arm is present

27
Q

balanced or unbalanced:

46, XY, t(1;8)(p22;q24)

A

balanced

28
Q

balanced or unbalanced:

46, XX, der(8)t(1;8)(p22;q24)

A

unbalances

der(8) abnormal chromosome

29
Q

balanced or unbalanced:

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

A

balanced– Robertsonian

30
Q

When there is an abnormal X

A

abnormal X inactivated if has XIST

31
Q

when there is a translocation between X and autosome

A

normal x inactivated

32
Q

when there is a unbalanced x translocation

A

abnormal x inactivated

33
Q

pericentric

A

around centromere inversion

34
Q

paracentric

A

outside centromere

35
Q

not present at birth

A

acquired changes

36
Q

cancer associated translocations like

A

t(9;22)

37
Q

philadelphia chromosome

A

der(22)

38
Q

t(9;22)

A

balanced translocation

39
Q

presence of additional karyotype changes

A

clonal evolution

40
Q

clona evolution is associated with

A

disease progression

41
Q

complex cancer changes affects cells in the

A

bone marrow

42
Q

why do translocations recur in cancer?

A

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

43
Q

why do deletions happen in cancer?

A

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

44
Q

constitutional trisomy

A

13,18,21

45
Q

acquired trisomy

A

any

46
Q

constitutional trisomy origin

A

meisosis

47
Q

acquired trisomy origin

A

mitosis

48
Q

constitutional monosomy

A

X

49
Q

acquired monosomy

A

any

50
Q

constitutional translocation balanced

A

no impact on phenotype; mostly unique to family

51
Q

acquired translocation balanced

A

diagnostic, recurrent

52
Q

constitutional translocation unbalanced

A

abnormal phenotype

53
Q

acquired translocation unbalanced

A

normal phenotype

54
Q

constitutional where

A

majority of cells

55
Q

acquired where

A

site of cancer

Genetics 2 (7 decks)

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