Cytogenetics 4th exam - Topic 6 (rationalization)

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Monosomy

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43 Terms

1

Monosomy

This refers to the the loss of a single chromosome from an otherwise diploid genome

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2

Nondisjunction

This is the process wherein paired homologs fail to disjoin during segregation

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3

Translocation

A chromosomal segment that breaks off and attaches to another chromosome is what type of mutation?

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4

Monosomy for any of the autosomes is usually tolerated in humans or other animals.

Which of the following is incorrect regarding monosomies

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5

Down Syndrome and Patau syndrome

Intellectual disability

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6

Patau syndrome

Cleft lip and palate

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7

Patau syndrome

Cryptorchidism

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8

Down Syndrome

epicanthic fold in each eye

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9

Down Syndrome

Single palmar crease

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10

Patau syndrome

Early lethality

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11

DSR gene suppresses vascular endothelial growth factor (VEGF) → blocks the process of angiogenesis

Which of the following is incorrect regarding Down syndrome?

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12

Meiosis is initiated in all the eggs @ fetal age → arrested in meiosis II

Which of the following is incorrect regarding hypothesis on incidence of down syndrome on increasing maternal age?

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13

35

At what maternal age does the incidence of down syndrome increase?

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14

47, 13+

Which of the following is the karyotype for Patau syndrome

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15

Alloploidy

This refers to the the combination of chromosome sets from different species occurring as a consequence of hybridization

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16

Autoploidy

This refers to the addition of one or more extra sets of chromosomes, identical to the normal haploid complement of the same species

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17

Translocation

Chronic myelogenous leukemia (CML) is caused when a segment of chromosome 9 and a segment of chromosome 22 both break off and switch places. What type of mutation is this?

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18

Intron

In organisms with large genomes, inversions are more likely to be tolerated if the breakpoints occur in:

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19

They can produce new alleles of existing genes.

Which of the following statements is true about mutations?

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20

Autoploidy

This arises as a result of a failure of all chromosomes to segregate during meiotic divisions which was then fertilized by a haploid gamete and produced a zygote with three sets of chromosomes is produced

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21

Inversion

Does not involve a loss of genetic information but simply rearranges the linear gene sequence

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22

Deletion

Missing piece when a chromosome breaks in one or more places and a portion of it is lost

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23

Translocation

involves the exchange of segments between two nonhomologous chromosomes

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24

Translocation

Leads to semisterility

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25

Duplication

When any part of the genetic material, a single locus or a large piece of a chromosome, is present more than once in the genome

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26

Deletion

Cri Du Chat syndrome

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27

Duplication

Gene redundancy in rRNA

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28

Duplication

Bar eye phenotype Drosophila

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29

Inversion

is a type of chromosomal aberration in which a segment of a chromosome is turned around 180 degrees within a chromosome.

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30

Translocation

Familial Down Syndrome

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31

Down Syndrome

Typical flat face and round head

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32

Patau syndrome

Double ureter

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33

Down Syndrome

epicanthic fold in each eye

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34

Chromosome 2

In Drosophila, monosomy for the larger chromosomes such as___ is apparently lethal because such flies have never been recovered

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35

Chr 5

Cri du Chat syndrome results from a mutation involving the small terminal portion of whay chromosome number?

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36

Haploinsufficiency

When a single copy of a recessive gene due to monosomy may be insufficient to provide life sustaining function for the organism, this is referred to as

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37

47, 18+

Which of the following is the karyotype for Edwards syndrome

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38

Trisomy

It is said that this chromosomal variation produces somewhat more viable individuals in both animal and plant species

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39

true

True/ False:

Inversion suppresses the recovery of crossover products when chromosome exchange occurs within the inverted region

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40

Incest

It is now known that mutations can arise from the following causes except?

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41

Mutation

The ultimate source of new genetic variation in a species is:

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42

Inversion

Offspring bearing crossover gametes are inviable and not recovered

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43

Inversion

Same principle used in balancer chromosomes

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