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Bio 140 > Chromosomal Aberrations > Flashcards

Chromosomal Aberrations Flashcards

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Biology 101 flashcards
1
Q

What is non-disjunction?

A

Failure of chromosomes to move to opposite poles

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2
Q

When does non-disjunction occur?

A

Anaphase of Meiosis 1 and meiosis 2, oogenesis, spermatogenesis

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3
Q

What happens if there is a complete absence of the x chromosome?

A

will die

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4
Q

How is it possible for a sperm cell to carry 2 y chromosomes?

A

Because or non-disjunction at anaphase 2

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5
Q

How do you write a karyotype?

A

Total no. of chromosomes, sex, what chromosome is extra eg. for down syndrome 47, XY, +21

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6
Q

Breast enlargement in males

A

Gynecomastia

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7
Q

A disorder where it occurs in 1 in 2000 newborn females, no masculinization, is sterile, and some with normal intelligence 45, XO

A

Turner syndrome

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8
Q

Has a frequency of 1/1200, is taller than average, mostly with normal sexual development, increased risk of learning disabilities, delayed motor skills, hypotonia, behavioral and emotional difficulties

A

Metafemales or triplo x

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9
Q

Has a frequency of 1/2000, and is named after Dr. Patricia Jacobs, characters include unusually tall, has tendency for subnormal intelligence, and tendency for personality disorder or aggressive behavior (has a karyotype of xyy)

A

Jacobs syndrome

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10
Q

Who proposed to screen newborn infants for xyy karyotype in 1968 at the boston hospital for women?

A

Stanley walzer and park gerald

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11
Q

What was the prison where Dr. Patricia Jacobs had karyotyped 315 males?

A

Scottish maximum security prison in 1965

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12
Q

What are the types of aberrations?

A

Variation in chromosome number and structural aberrations

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13
Q

The types of variation in chromosome number

A

Aneuploidy and euploidy

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14
Q

This is the change in the number of one or a few chromosomes but not a complete set eg. 2n+1

A

Aneuploidy

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15
Q

This is the change in the number of complete sets of chromosomes eg. 3n

A

Euploidy

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16
Q

What are the types of structural aberrations?

A

Deletions, duplications, inversions, translocations, fragile sites

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17
Q

How may aneuploidy arise?

A

1 loss of centromere leading to acentric chromosome, 2 loss of the small chromosome generated thru a robertsonian translocation, 3 non-disjunction

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18
Q

What are the types of aneuploidy?

A

Nullisomy, monosomy, trisomy, tetrasomy

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19
Q

This is the loss of both members of a homologous chromosome making it non-viable

A

Nullisomy

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20
Q

What is an example of nullisomy?

A

Loss of sex chromosomes, or pair of autosomes

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21
Q

What is monosomy?

A

Loss of a single chromosome eg. 2n-1 XO Turner’s syndrome

22
Q

This is the gain of a single chromosome eg. 2n+1, xxy, xxx, xyy

A

Trisomy

23
Q

What are examples of trisomy?

A

Sexual trisomy: Kleinfelter, metafemale, jacobs note: there are also autosomal trisomy

24
Q

What is 2n+1+1?

A

Double trisomy

25
Q

This is the gain of 2 homologous chromosomes eg. 2n+2, xxxx, xxxy

A

Tetrasomy

26
Q

What is 2n-1-1?

A

Double monosomy which is an aberration at 2 chromosome locations

27
Q

What are the types of autosomal trisomy?

A

Trisomy 21, trisomy 18, trisomy 13

28
Q

What is trisomy 21?

A

Down syndrome

29
Q

What is trisomy 18?

A

Edwards syndrome

30
Q

What is trisomy 13?

A

Patau syndrome

31
Q

Characterized by mental retardation, congenital heart defects, 1/100 risk of leukemia, short broad skull, cataracts, life expectancy is 30 yrs but 25% live up to 50 yrs also known as mongolism

A

Down syndrome

32
Q

What is the probability of getting child with down syndrome at the age of 20?

A

1/2000

33
Q

What is the probability of getting child with down syndrome at the age of 30?

A

1/900

34
Q

What is the probability of getting child with down syndrome at the age of 40?

A

1/100

35
Q

What is the probability of getting child with down syndrome at the age of 50?

A

1/12

36
Q

What are the characteristics of edward syndrome?

A

1/8000 live births, severely retarded, elfin appearance, receding lower jaw, low set ears, short neck, deformed teeth, clenched fingers, heart problems

37
Q

This usually affects females with a mortality of 80% at 2 yrs old

A

Edwards syndrome

38
Q

1/15000 live births, severe mental retardation, small head, sloping forehead, small eyes, cleft lip and palate, polydactyly

A

Patau syndrome

39
Q

Half of children die within the 1st month and 95% die by age 3

A

Patau syndrome

40
Q

Why does monosomy and trisomy not common for other autosomes?

A

Because deformation is so severe it leads to spontaneous abortion

41
Q

Why does euploidy occur?

A

Because of polyspermy

42
Q

This is common in plants where 40% occurs in flowering plants and about 70-80% occurs in grasses and thus is agriculturally important

A

Polyploidy

43
Q

All chromosome sets are from a single species

A

Autopolyploidy

44
Q

Even no. of polyploids have______ survival and fertility than odd no. of polyploids

A

Greater

45
Q

There is _______ fertility in genetically unbalanced daughter cells

A

Reduced

46
Q

This is when chromosome sets are from 2 different species

A

Allopolyploidy

47
Q

9A9B in f2 generation

A

Amphidiploid or allotetraploid

48
Q

What are the significance of polyploidy?

A

Increase in chromosome number causes increase in cell size, many polyploids have bigger flowers, fruits, leaves, and seeds or sometimes no seeds

49
Q

female horse x male donkey

A

Mule

50
Q

male horse x female donkey

A

Hinny

Bio 140 (5 decks)

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