[2.1] Chromosomal Mutations

Question 1

also known as Chromosomal aberrations

Answer 1

Chromosomal Mutations

Question 2

Chromosomal abnormalities:
Abnormal Number

Answer 2

Aneuploidy

Question 3

Chromosomal abnormalities:
Alterations

Answer 3

Structural

Question 4

Variation of 2 Chromosomal Mutation

Answer 4

1. Chromosome Structure
2. Chromosome Number

Question 5

4 chromosome structure

Answer 5

1. Duplication
2. Deletion
3. Inversion
4. Translocation

Question 6

2 chromosome number

Answer 6

1. Aneuploidy
2. Polyploidy

Question 7

One or more individual chromosome pair, either “up” or “down”

Answer 7

Aneuploidy

Question 8

If normal = 46 chromosome,
then _______ = 45 chromosome or 47 chromosome

Answer 8

Aneuploidy

Question 9

One or more complete chromosomes sets added

Answer 9

Polyploidy

Question 10

If normal = 2n, then _____= 3n, 4n, 5n, etc…

Answer 10

Polyploidy

Question 11

Failed to separate or segregate at anaphase

Answer 11

Non-disjunction

Question 12

Two or more different cell lines in one person

Answer 12

Mosaicism

Question 13

Doubling of segment of a chromosome

Answer 13

Duplication

Question 14

3 Forms of Duplication

Answer 14

1. Tandem duplication
2. Reverse duplication
3. Terminal tandem duplication

Question 15

Example:

ABCD·EFEFGH

Answer 15

Tandem duplication

Question 16

Example:

ABCD·FEEFGH

Answer 16

Reverse duplication

Question 17

Example:

ABABCD

Answer 17

Terminal Tandem duplication

[Starts at the END]

Question 18

4 Effects of Duplication

Answer 18

1. Utero reproduction
2. Craps shoot
3. During Prophase 1 and M, Synapsis
4. Unbalanced gene dosage

Question 19

3 syndrome of Duplication

Answer 19

1. Pallister Killian syndrome (extra #12 chromosome)
2. Potocki-Lupski syndrome (17p11.2)
3. Fragile X syndrome (Xq27)

Question 20

Syndrome of Duplication:
Extra 12 chromosome, intellectual disability, prominent forehead, poor muscle tone, coarse facial features

Answer 20

Pallister Killian syndrome

Question 21

Syndrome of Duplication:
Extra copy small of 17 chromosome, weak muscle tone, swallowing difficulty

Answer 21

Potocki-Lupski syndrome

Question 22

Syndrome of Duplication:
also known as “17p11.2”

Answer 22

Potocki-Lupski syndrome

Question 23

Weak muscle tone is called

Answer 23

Hypotonia

Question 24

Swallowing difficulty is called

Answer 24

Dysphagia

Question 25

Syndrome of Duplication: Multiple duplication of CGG - FMR1 gene, causes PROGNATHISM

Answer 25

Fragile X syndrome

Question 26

Syndrome of Duplication: also known as "Xq27"

Answer 26

Fragile X syndrome

Question 27

Loss of segment of a chromosome

Answer 27

Deletion

Question 28

caused by agents such as heat, ionizing radiation, viruses, etc...

Answer 28

Deletion

Question 29

also known as "Looping out" in Prophase 1 than focuses on recessive alleles

Answer 29

Deletion

Question 30

3 Types of Deletion

Answer 30

1. Terminal 2. Intercalary/Interstitial 3. Microdeletion

Question 31

Types of Deletion: Towards the END of a chromosome

Answer 31

Terminal

Question 32

Types of Deletion: INFERIOR of a chromosome

Answer 32

Intercalary or Interstitial

Question 33

Types of Deletion: Small amount of deletion

Answer 33

Microdeletion

Question 34

True or False: Larger amount of microdeletion can cause abortion or miscarriage

Answer 34

True

Question 35

3 Effects of Deletion

Answer 35

1. Deletion w/ centromere, chromosome will NOT segregate 2. Gene imbalance 3. Frameshift mutations

Question 36

Syndrome or examples of Deletion

Answer 36

1. Cri du chat syndrome 2. Chronic Lymphocytic leukemia 3.Spinal muscular atrophy 4. Angelman Syndrome 5. DiGeorge syndrome 6. Wilms Tumor 7. Retinoblastoma 8. Prader-Willi syndrome

Question 37

Syndrome of Deletion: 5p-, Catlike cry

Answer 37

Cri du chat syndrome

Question 38

Syndrome of Deletion: 11q-, Kidney tumor, genital, urinary tract abnormalities

Answer 38

Wilms Tumor

Question 39

Syndrome of Deletion: 13q-, Eye cancer, higher risk for cancer

Answer 39

Retinoblastoma

Question 40

Syndrome of Deletion: 15q-, infant: weak slow growth, child/adult: obesity

Answer 40

Prader-Willi syndrome

Question 41

Reintegrated in 180 degrees of original orientation

Answer 41

Inversion

Question 42

2 forms of Inversion

Answer 42

1. Pericentric Inversion 2. Paracentric Inversion

Question 43

Forms of Inversion: Involves centromere

Answer 43

Pericentric Inversion

Question 44

Effects of Inversion

Answer 44

1. Pan troglodytes - chimpanzee at chromosome 4 2. breaks half= inactive

Question 45

Syndrome of Inversion

Answer 45

Brenden's 12 chromosome [HMGA2]

Question 46

Change in position of chromosome segregate

Answer 46

Translocation

Question 47

No gain or loss of genetic material

Answer 47

Translocation

Question 48

2 Forms of Translocation

Answer 48

1. Intrachromosomal 2. Interchromosomal

Question 49

Forms of Translocation: Change in position of chromosome segment within the SAME CHROMOSOME

Answer 49

Intrachromosomal

Question 50

Forms of Translocation: Transfer from one chromosome to nonhomologous chromosome and are non-reciprocal

Answer 50

Interchromosomal

Question 51

ABCD·EFGH STUV·WXYZ _________________ AB·EFGH STUV·WCDXYZ

Answer 51

Normal Translocation

Question 52

ABCD·EFGH STUV·WXYZ _________________ AXYB·EFGH STUV·WCDZ

Answer 52

Reciprocal Translocation

Question 53

Robertsonian Translocation is also known as

Answer 53

Down syndrome

Question 54

2 Types of Interchromosomal Translocation

Answer 54

1. Reciprocal 2. Non-reciprocal

Question 55

Type of Interchromosomal Translocation: Exchange of segments between two chromosome

Answer 55

Reciprocal

Question 56

Type of Interchromosomal Translocation: Transfer of segment in one direction from one chromosome to another

Answer 56

Non-reciprocal

Question 57

Short arms and long arms of same chromosome join at at the centromere, creates two copies of a large genetic region

Answer 57

Isochromers

Question 58

Special cases of joining at centromere, occurs between chromosomes that has tiny short arms (acrocentric)

Answer 58

Robertsonian Translocation