Ch. 8 Flashcards

1
Q

Aneuploids

A

alters the number of chromosomes

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2
Q

chromosome rearrangements (provide the types)

A

alter the chromosome structure; duplication, deletion, inversion, translocation

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3
Q

Polyploids

A

one or more additional sets of chromosomes (some plants, tumors)

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4
Q

non-disjunction

A

failure of homologous chromosomes or sister chromatids to segregate properly

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5
Q

Correct gene dosage means…

A

the proper number and kind of chromosomes are required for proper development

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6
Q

Monosomy

A

loss of one member of the homologous pair; almost always lethal

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7
Q

Trisomy

A

one additional member of an homologous pair; almost always lethal

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8
Q

When there is nondisjunction in meiosis I, how many gametes are abnormal

A

4

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9
Q

Nondisjunction in meiosis II

A

2 normal gametes, 2 abnormal gametes

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10
Q

nondisjunction occurs in

A

anaphase- problem in separation

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11
Q

Trisomy 13

A

Patau Syndrome; extreme malformation of organ systems

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12
Q

trisomy 18

A

Edward syndrome; slow growth and multiple abnormalities

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13
Q

Trisomy 21

A

Down syndrome; characteristic facial features and wide range of cognitive impairment

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14
Q

Which is more damaging- imbalance in sex chromosomes or imbalance in autosomes?

A

imbalance in autosomes

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15
Q

Random X-inactivation

A

only 1 X is in an active state; all others are inactive and condensed into Barr bodies

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16
Q

Barr Body

A

small, darkly staining body in interphase cells of normal female

17
Q

Klinefelter syndrome

A

XXY; poor beard growth, breast development, and under-developed testes

18
Q

Turner Syndrome

A

X0; characteristic facial features, web of skin, constriction of aorta, poor breast development, under-developed ovaries

19
Q

changing the copy number of a gene can result in…

A

unbalanced gene dosage

20
Q

duplication

A

a mutation in which part of the chromosome has been doubled

21
Q

human segmental duplications make up how much of the human genome

22
Q

Deletion

A

the loss of a chromosome segment (the impact of a deleted region depends on what was deleted)

23
Q

If the centromere is deleted

A

no segregation during mitosis or meiosis; gets lost

24
Q

Inversions

A

The order of alleles change (a chromosome segment is inverted)

25
paracentric inversion
does not include the centromere
26
Pericentric inversion
includes the centromere
27
translocations
movement of genetic material between NON-homologous chromosomes or the same chromosome
28
reciprocal translocations
reciprocal exchange of segments between 2 non-homologous chromosomes
29
What are 2 examples of a reciprocal translocation?
Burkitt's Lymphoma and Philadelphia chromosome
30
Robertsonian Translocation
occurs between the short arm of an acrocentric chromosome and the long arm of another; generates a metacentric chromosome with 2 long arms and another chromosome with 2 very short arms
31
Uniparental Disomy
both homologs from one parent
32
What are examples of uniparental disomy
Angelman Syndrome and Prader-Willi Syndrome
33
Why is it a problem to have both homologs from one parent?
homozygosity for any detrimental alleles; imprinting
34
solving nondisjunction problems: if we have one X^something at the end it is from
the opposite parent so X^aY crossed with X^- X^- which gives X^a which would be nondis in mother but we can't determine meiosis 1 or 2
35
in a nondisjunction problem what if we have both alleles from that parents at the end
there was nondisjunction in that parent if it has both of their alleles= meiosis 1 if it has one of their alleles replicated= meiosis 2
36