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Genetics 2 > Cytogenetics 1 > Flashcards

Cytogenetics 1 Flashcards

exam 2

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1
Q

short arm and goes up

A

p

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2
Q

long arm and goes down

A

q

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3
Q

centromere in the middle

A

metacentric

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4
Q

centromere in the upper part

A

submetacentric

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5
Q

centromere at the tip

A

acrocentric

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6
Q

exchange of material between two or more chromosomes

A

translocation

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7
Q

loss of material

A

deletion

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8
Q

gain of material

A

duplication

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9
Q

alteration within a chromosome

A

inversion

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10
Q

numbers stay at 46

A

structural

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11
Q

gain or loss of a chromosome–> number changes from 46

A

Numerical

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12
Q

trisomies that are compatible with life

A

13, 18, 21 and X/Y

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13
Q

Is a loss of sex chromosome compatible with life

A

yes

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14
Q

47, XX/XY, +21

A

Down

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15
Q

47, XX/XY, +18

A

Edwards

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16
Q

47, XX/XY, +13

A

Patau

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17
Q

small size, small head circumference - congenital heart defects - overlapping finger - rocker bottom feet - very poor prognosis, only 5% survive beyond 1 year

A

Edwards syndrome features

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18
Q

single palmar crease - sandal gap - small ear - nuchal skin fold - clinodactyly - hypotonia - hyperflexibility of joints

A

Downs’ syndrome: newborn features

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19
Q

intellectual disability - congenital heart disease gastrointestinal abnormalities -atlantoaxial instability -strabismus - thyroid abnormalities -leukemia

A

Downs syndrome: associated findings

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20
Q

scalp defects, microcephaly, micropthalmia, holoprosencephaly, clef lip and palate - CHD - polydactyly - renal anomalies - very poor prognosis

A

trisomy 13 features

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21
Q

sex chromosome changes (4)

A

(1) turner syndrome (2) klinefelter syndrome (3) 47, XYY (4) 47, XXX

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22
Q

only one X chromosome present no other X or Y

A

turner syndrome

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23
Q

1 in 2,00-2,500 female births - lymphedema in infancy - bicuspid aortic valve, coarctation of aorta - low posterior hairline, webbed neck, widely-spaced hypoplastic nipples-horshoe kidney -cubitous valvus of elbow

A

turner’s syndrome

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24
Q

45, X

A

turners ~50%

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25
Q

46, X abnormal X

A

turners syndrome

26
Q

1 in 500 - 1,000 male births - tall stature, long limbs -learning differences - gynecomastia - small testicles - infertility due to hypogonadism with oligospermia/ azoospermia

A

klinefelter syndrome

27
Q

two x chromosome and one small Y

A

klinefelter

28
Q
  • 1 in 1,000 female births -speech delay, IQ 10-15 points below siblings -increased risk for infertility - most offspring are chromosomally normal
A

47, XXX

29
Q
  • 1 in 1,000 male births - IQ 10-15 points below siblings - may be at increased risk for behavioral problems- impulsivity and emotional immaturity - most offspring are chromosomally normal
  • risk of infertility issues
A

47, XYY

30
Q

compensates for dosage difference between males and females

A

x- inactivation

31
Q

is x inactivation reversible?

A

Yes!

32
Q

steps involved in X-inactivation (3)

A

(1) Counting (2) Choice (3) cis inactivation

33
Q

Counting

A

mechanism to assess how many X-chromosomes present

34
Q

Choice

A

random if both chromosomes normal

35
Q

Abnormal X

A

inactivated if has XIST

36
Q

translocation between X and autosome

A

normal X inactivated

37
Q

Unbalanced X translocation

A

Abnormal X inactivated

38
Q

counting requires at least one x chromosome is

A

active

39
Q

Cis inactivation spreads in

A

both directions

40
Q

amount of genes that escape inactivation

A

15%

41
Q

XIST locus in

A

Xq13

42
Q

cis inactivation in different tissues

A

variable expression

43
Q

single chromosome changes are most often

A

non-disjunction

44
Q

Diploid

A

2 copies for every chromosome

45
Q

haploid

A

1 copy of every chromosome

46
Q

triploid

A

3 copies of every chromosome

47
Q

cause of triploid (3)

A

(1) 2 sperms fertilizing 1 egg (2) sometimes found in prenatal analysis (3) frequently seen in missed abortion material

48
Q

69, XXY

A

three copies of every chromosome

49
Q

nondisjunction during meiosis gives rise to

A

trisomy in the conceptus

50
Q

meiosis and nondisjunction can occur

A

with any chromosome not just 13, 18, 21 but conceptus may not be viable

51
Q

what can occur during fetal development?

A

trisomic rescue

52
Q

trisomic rescue

A

one of the extra chromosomes is lost

53
Q

trisomic rescue can result in

A

uniparental disomy

54
Q
A

heterodisomy; three different copies of a chromosome

55
Q
A

isodosomy; two copies are the same but one is a new different copy

56
Q
A

M1 Block

57
Q
A

M2 Block

58
Q
A

normal

59
Q
A
  1. isodosomy
  2. heterodosomy
  3. ok
  4. ok
  5. uniparental disomy
  6. ok
  7. ok
60
Q

which X gets inactivated if a fetus has a blananced X- autosome translocation

A

Normal X is inactivated

61
Q

infant that presents with oral and/or facial clefts, microphtalamia, cutis aplasia and cardiac abnormalities

A

Patau

Genetics 2 (7 decks)

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