Module 3 Mutations

Question 1

affect somatic cells so they affect only the individual
that carries them, while others affect all of the carrier
organism’s offspring, and further descendants.

Answer 1

Somatic mutations

Question 2

occur in cells that produce the next
generation, and affect the hereditary material.

Answer 2

Germline (germinal) mutations

Question 3

Types of Chromosomal Aberrations:

Answer 3

• Deficiencies or deletions
• Duplications or repeats
• Inversions
• Translocations

Question 4

the joining of a fragmented chromosome to a nonhomologous chromosome

The piece of chromosome detaches from one
chromosome and moves to a new position on another chromosome

Answer 4

Translocations

Question 5

duplicating segment gets
incorporated next to the corresponding segment;

Answer 5

tandem/repeat duplication

Question 6

duplicating segment gets
incorporated next to the
corresponding segment but order
is reversed.

Answer 6

Reverse tandem duplication

Question 7

the segment is repeated somewhere away from its original location

Answer 7

Displaced tandem duplication

1). homobrachial displacement
2). heterobrachial displacement

Question 8

when the segment is duplicated on the nonhomologous chromosome;

Answer 8

transposition

Question 9

Types of inversion
a. ______inversion –
centromere is not included in the inversion
b. ______ inversion –centromere is included in the inversion

Answer 9

Paracentric ;

Pericentric

Question 10

mutual exchange (swapping) of segments between
non-homologous chromosomes

Answer 10

Reciprocal translocation

Question 11

unequal exchange
between non-homologous chromosomes

Answer 11

Non-reciprocal translocation -

Question 12

3 breaks, so that a two-break section
of one chromosome is inserted within the break produced in a nonhomologous chromosome (

Answer 12

Shift or intercalary translocation

Question 13

a chromosome in which both arms are identical. It is
thought to arise when a centromere divides in the wrong plane, yielding
two daughter chromosomes, each of which carries the information of one
arm only but present twice.

Answer 13

Isochromosomes

Question 14

Sometimes breaks occur at each end of the
chromosome and broken ends are joined to form a ring chromosome.

Answer 14

Ring chromosomes

Question 15

whole arm fusions occur in the nonhomologous chromosomes

Answer 15

Robertsonian translocation

Question 16

a chromosome mutation that results in individuals with more than one haploid set of chromosomes in a cell

Answer 16

POLYPLOIDY: diploidy, triploidy and tetraploidy

Question 17

have multiple sets of chromosomes

chromosomes are of the same type and origin

Answer 17

Autopolyploids

Question 18

have multiple sets of chromosomes

chromosomes are of different type and origin

• results from concurrent hybridization and mutations in chromosome number

Answer 18

Allopolyploids

Question 19

a chromosome mutation that causes individuals to have an abnormal number of chromosomes

Answer 19

ANEUPLOIDY

Question 20

Trisomy 21

is one of the most common causes of human birth defects.
Symptoms vary from person to person and can range from mild to severe.

Answer 20

Down Syndrome

Question 21

Trisomy 18

Answer 21

Edwards Syndrome

Question 22

Trisomy 18 types:

• ~95% of the cases
  – very rare
  – very rare

Answer 22

Full trisomy 18

Partial trisomy 18 (translocation type) –

Mosaic trisomy 18

Question 23

Trisomy 13

Answer 23

Patau Syndrome

a. Trisomy 13
b. Mosaicism
c. Partial trisomy 13 (translocation type)

Question 24

Trisomy 13

Answer 24

Patau Syndrome

a. Trisomy 13
b. Mosaicism
c. Partial trisomy 13 (translocation type)

Question 25

is also known as Warkany
syndrome after Dr Josef Warkany.

Answer 25

Trisomy 8 Mosaicism Syndrome