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Genetics > Chapter 8 > Flashcards

Chapter 8 Flashcards

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Biology 101 flashcards
1
Q

the variations in the number and structure of chromosomes

A

chromosome mutations

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2
Q

what are mutations that that alter the structure of the chromosome?

A

chromosome rearrangement

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3
Q

what are mutations that alter the number of chromosomes

A

aneuploidy

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4
Q

What are chromosome mutations that add complete sets of chromsomes

A

polyploidy

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5
Q

What is a mutation where part of the chromosome has been doubled

A

chromosome duplication

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6
Q

what is the duplication where the segment is next to the original or far away from the original respectively

A

tandem and displaced duplication

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7
Q

What is a duplication that is inverted

A

reverse duplication

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8
Q

what are sections of the genome that have duplications greater than 1000 bp

A

segmental duplications

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9
Q

what is the process where chromosomes misalign during crossing over

A

unequal crossing over

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10
Q

What is the rearrangement where a chromosome segment is lost

A

chromosome deletion

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11
Q

What is the phenomenon where a recessive allele is demonstrated because of the wild type allele being lost with deletion?

A

pseudodominance

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12
Q

What is the phenomenon where one copy is not enough to produce a wild-type phenotype?

A

haploinsufficient

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13
Q

What is the rearrangement where a chromosome segment is turned 180 degrees.

A

chromosome inversion

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14
Q

what are inversions that do not include and include the centromere respectively

A

paracentric and pericentric inversions

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15
Q

What is the phenomenon where the position alters the outcome

A

position effect

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16
Q

What is a chromatid with two centromeres and no centromeres respectively

A

dicentric and acentric chromatid

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17
Q

What is the structure where the dicentric chromatic is brought to the center in anaphase I

A

dicentric bridge

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18
Q

What is the mutation where genetic material is moved between nonhomologous chromosomes or within the same chromosome

A

translocation

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19
Q

What is the form of translocation where genetic material is moved without any reciprocal exchange and with exchange respectively

A

nonreciprocal and reciprocal translocation

20
Q

What is a form of translocation where two acrocentric chromosomes are combined to form one metacentric chromosome and a small fragment

A

Robertsonian translocation

21
Q

What is segregations where the normal chromosomes and the translocated chromosomes move in respective pairs to opposite poles.

A

Alternate segregation

22
Q

What happens when a normal and translocated chromosome move together, but whose centromeres sharing chromosomes are seperated

A

adjacent-1 segregation

23
Q

What Happens when the two normally homologous chromosomes before translocation go together (rare)

A

Adjacent-2 segregation

24
Q

What are areas that develop constrictions or gaps when the cells are grown in culture and are prone to breakage

A

fragile sites

25
Q

What syndrome sees a fragil site on the X-chromosome

A

fragile-X syndrome

26
Q

What uses the number of copies to detect rearrangements?

A

copy-number variations

27
Q

what are variations that include rearrangements and copy-number variations?

A

structural variants

28
Q

what is the loss of both members of a homologous pair

A

nullisomy

29
Q

What is the loss of a single chromosome

A

monosomy

30
Q

What is the gain of a single chromosome

A

trisomy

31
Q

What is the gain of two homologous chromosomes

A

tetrasomy

32
Q

A duplication of a chromosome 21 that results in flat face, small nose, oval-shaped eyes, and intellectual disabilities

A

Down syndrome/trisomy 21

33
Q

What is the form of down syndrome that impacts 92% of the afflicted with a full copy of chromosome 21 mainly in nondisjunction during egg formation

A

primary down syndrome

34
Q

What form of down syndrome results in the combination of chromosome 21’s long arm with another chromosome (chromosome 14 short arm; centromere from 14) via Robertsonian translocation and can run in the family

A

familial down syndrome

35
Q

What are carriers of the familial down syndrome that are normal despite lacking a chromosome

A

translocation carriers

36
Q

What is the syndrome with an additional chromosome 18; that have a intellectual disability, low-set of ears, short neck, deformed feet, clenched fingers, hear problems, and other disabilities. Most die early

A

Edwards syndrome/trisomy 18

37
Q

What is the syndrome with an additional chromosome 13 that results in a small head, sloping forehead, small eyes, a cleft lip and palate, extra fingers and toes, and numerous other problems; most die before 3

A

patau syndrome/trisomy 13

38
Q

What is a rare condition that leads to disability in intelligence, low-set of malformed ears, contracted fingers and toes, and most are mosaics.

A

trisomy 8

39
Q

what is the condition where both chromosomes are inherited from the same parent

A

uniparental disomy

40
Q

regions of tissues with different chromosome constitutions

A

genetic mosaicism

41
Q

what are sexual mosaics

A

gynandromorphs

42
Q

What are polyploidy genomes that are produced by accidents of mitosis or meiosis that produce extra sets of chromosomes, all derived from a single species.

A

autopolyploidy

43
Q

What are gametes with different numbers of chromosomes

A

unbalanced gametes

44
Q

What are polyploidy genomes that are produced by hybridizing two species

A

allopolyploidy

45
Q

what is a type of allopolyploid that consists of two combined diploid genomes

A

amphidiploid

Genetics (12 decks)

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