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Cytogenetics > Karyotyping I > Flashcards

Karyotyping I Flashcards

1
Q

It is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.

A

Karyotype

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2
Q

[3] Karyotype analyzes:

A
  1. Sex chromosomes
  2. Presence or absence of individual chromosomes.
  3. Nature or extent of chromosomal aberrations.
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3
Q

It is a complete set of chromosomes in a species, or an individual organism.

A

Karyotype

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4
Q

[2] Karyotypes may be performed by taking:

A
  1. blood, bone marrow, or skin sample from adult.
  2. sample of amniotic fluid or extra-embryonic cells from an unborn child.
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5
Q

(contains stray cells)

A

amniotic fluid

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6
Q

(from the chorionic villi)

A

extra-embryonic cells

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7
Q

Once the cells have been obtained for a karyotype, they are mixed with plant-derived chemicals called ____ that stimulate mitosis.

A

lectins

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8
Q

After the required quantity of cells has been acquired, the cells are treated with a drug called _____ to stop the mitotic process at metaphase.

A

colchicine

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9
Q

This arrests the action of spindle fiber microtubules; hence ceasing the mitotic process.

A

Colchicine

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10
Q

Chromosomes may be distinguished from one another based upon several key characteristics:

A
  1. the length of the arms of the chromosome.
  2. shape
  3. general appearance of the chromosome.
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11
Q

Provides a mechanism to determine if non-dis
junctional diseases, such as Down syndrome (Trisomy21), are present in the fetus.

A

Karyotype analysis

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12
Q

It also provides a look at the chromosomes to see if there are any missing segments (deletions) or translocations that may have occurred during crossing-over.

A

Karyotype

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13
Q

A chromosome number that is a multiple of the normal haploid set.

A

Polyploidy

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14
Q

A chromosomal number that varies by something less than a set.

A

Aneuploidy

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15
Q

Having three copies of a single chromosome.

A

Trisomy

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16
Q

35%-70% of early embryonic deaths and spontaneous abortions are caused by this.

A

Aneuploidy

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17
Q

1 in 170 live births are at least partially what?

A

aneuploid

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18
Q

5%-7% of early childhood death stare related to?

A

Aneuploidy

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19
Q

Errors in meiosis.

[poly, tri, tetra]

A

Polyploidy

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20
Q

Events after fertilization.

[poly, tri, tetra]

A

Polyploidy

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21
Q

Errors in mitosis.

[poly, tri, tetra]

A

Polyploidy

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22
Q

Three sets of chromosome.

[poly, tri, tetra]

A

Triploidy

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23
Q

Most common form of polyploidy.

[poly, tri, tetra]

A

Triploidy

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24
Q

15%-18% of all spontaneous abortions.

[poly, tri, tetra]

A

Triploidy

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25
Q

Approximately 75% have two sets of paternal chromosomes.

[poly, tri, tetra]

A

Triploidy

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26
Q

Probably due to polyspermy.

[poly, tri, tetra]

A

Triploidy

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27
Q

1% conceptions are triploid but 99% die before birth.

[poly, tri, tetra]

A

Triplody

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28
Q

Four sets of chromosome.

[poly, tri, tetra]

A

Tetraploidy

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29
Q

5% of all spontaneous abortions.

[poly, tri, tetra]

A

Tetraploidy

30
Q

Extremely uncommon in live births.

[poly, tri, tetra]

A

Tetraploidy

31
Q

May result from failure of cytokinesis in the first mitotic division.

[poly, tri, tetra]

A

Tetraploidy

32
Q

Life threatening.

[poly, tri, tetra]

A

Tetraploidy

33
Q

It is the failure of homologs or sister chromatids chromosomes to separate in meiosis or mitosis.

A

Non-disjunction

34
Q

[2] Non-disjunction

A
  1. Produces abnormal gametes
  2. Phenotypic effects of aneuploidy
35
Q

Lethal condition.

[autosomal’s]

A

Autosomal monosomy

36
Q

Aneuploidy during gamete formation produces equal numbers of monosomic and trisomic gametes and embryos.

[autosomal’s]

A

Autosomal monosomy

37
Q

Rarely seen in spontaneous abortions and live births.

[autosomal’s]

A

Autosomal monosomy

38
Q

Majority are lost early in development.

[autosomal’s]

A

Autosomal monosomy

39
Q

Most are lethal.

[autosomal’s]

A

Autosomal trisomy

40
Q

50% of cases of chromosomal abnormalities that cause fetal death are autosomal trisomies.

[autosomal’s]

A

Autosomal trisomy

41
Q

Trisomy 13

A

Patau syndrome (47 +13)

42
Q

Trisomy 18

A

Edward syndrome (47 + 18)

43
Q

Trisomy 21

A

Down syndrome (47 + 21)

44
Q

1/10,000 births

[trisomy]

A

Edwards syndrome (47+18)

45
Q

Average survival time: 2-4 months

[trisomy]

A

Edwards syndrome (47+18)

46
Q

Affected infants small at birth grow slowly and are mentally retarded.

[trisomy]

A

Edwards syndrome (47+18)

47
Q

Malformation of heart, hands and feet.

[trisomy]

A

Edwards syndrome (47+18)

48
Q

For unknown reasons 80% of all trisomy 18 are female.

[trisomy]

A

Edwards (47+18)

49
Q

Advanced maternal age is a risk factor.

[trisomy]

A

Edwards syndrome (47+18)

50
Q

1/5,000births.

[trisomy]

A

Patau syndrome (47+13)

51
Q

Lethal: mean survival time is at least 1 month.

[trisomy]

A

Patau syndrome (47+13)

52
Q

Facial malformations, eye defects, extra fingers or toes, and large protruding heels.

[trisomy]

A

Patau syndrome (47+13)

53
Q

Severe malformations of brain, nervous system, and heart.

[trisomy]

A

Patau syndrome (47+13)

54
Q

Parental age only known risk factor.

[trisomy]

A

Patau syndrome (47+13)

55
Q

First chromosomal abnormality discovered in humans (1959).

[trisomy]

A

Down syndrome (47+21)

56
Q

1/700 live births.

[trisomy]

A

Down syndrome (47+21)

57
Q

Leading cause of mental retardation and heartdefects in US.

[trisomy]

A

Down syndrome (47+21)

58
Q

Wide flat skulls, skin folds in the corner of the eyes, spots on the irises, and thick-furrowed tongues.

[trisomy]

A

Down syndrome (47+21)

59
Q

40% congenital heart defects.

[trisomy]

A

Down syndrome (47+21)

60
Q

Features do not develop until after puberty.

[ktj syndrome]

A

Kinefelter’s syndrome

61
Q

Affected individuals are male with low fertility and may have mental dysfunction.

[ktj syndrome]

A

Kinefelter’s syndrome

62
Q

60% due to maternal nondisjunction.

[ktj syndrome]

A

Kinefelter’s syndrome

63
Q

Other forms XXYY, XXXY and XXXXY.

[ktj syndrome]

A

Kinefelter’s syndrome

64
Q

Females; short, wide chest; rudimentary ovaries; and abnormal sexual development.

[ktj syndrome]

A

Turner’s syndrome

65
Q

Puffiness of hands and feet.

[ktj syndrome]

A

Turner syndrome

66
Q

Abnormalities of the aorta.

[ktj syndrome]

A

Turner syndrome

67
Q

No mental dysfunction.

[ktj syndrome]

A

Turner syndrome

68
Q

Single X chromosome; two X chromosomes are required for normal female sexual development.

[ktj syndrome]

A

Turner syndrome

69
Q

Complete absence of an X chromosome is lethal- (So, no Y monosomies).

[ktj syndrome]

A

Turner syndrome

70
Q

Above average in height.

[ktj syndrome]

A

Jacob syndrome

71
Q

No established link with possible antisocial behavior.

[ktj syndrome]

A

Jacob syndrome

Cytogenetics (14 decks)

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