Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

GENERAL BIOLOGY I > CHROMOSOMAL ABERRATIONS > Flashcards

CHROMOSOMAL ABERRATIONS Flashcards

You may prefer our related Brainscape-certified flashcards:
AP® Biology flashcards Biology 101 flashcards
1
Q

Breakage of a chromosome that leads to a variety of rearrangements affecting the genes of that chromosome

Even if all chromosomes are present in normal numbers, abnormalities in the chromosome structure may cause disorder

A

Chromosomal Aberrations

Or Alterations of Chromosomal Structure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Occurs when a fragment of a chromosome is lost

A

Deletion

Large deletions tend to have the most serious effects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Deletion that occurs towards the end of a chromosome

ABC O DEFG → BC O DEFG

A

Terminal Deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Deletion that occurs from the interior of chromosomes

ABC O DEFG → A O DEFG

A

Interstitial Deletion

or Intercalary Deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Small deletion up to 5MB, a doze of genes

MB: Million base pairs

A

Microdeletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Occurs when a fragment from one chromosome joins a homologous chromosome

A

Duplication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Duplicated segment is present in another genome

ABC O DEFG → LMN O PQREFG

A

Interchromosomal Duplication

ABC O DEFG → LMN O PQREFG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Duplicated segment is present in the same chromosome

A

Intrachromosomal Duplication

3 Subtypes for Tandem Repeat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Tandem Repeats under Intrachrosomal Duplication

Gene order of duplicated segment is that of the original segment

Immediately after original segment

ABC O DEFG → ABC O DEFGEFG

A

Direct Tandem

Intrachromosomal Duplication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Tandem Repeats under Intrachrosomal Duplication

Gene order of the duplicated segment is reversed

ABC O DEFG → ABC O DEFGGFE

A

Reverse Tandem

Intrachromosomal Duplication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Tandem Repeats under Intrachrosomal Duplication

Duplicated segment is removed from the original segment

ABC O DEFG → ABC O DEFG ?? [TBF]

A

Displaced Tandem

Intrachromosomal Duplication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Occurs when a fragment breaks off reattaches within the same chromosome in an altered orientation

All the genes are still present in their normal number, but switching is present. Not as bad as getting syndromes from the other types

A

Inversion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Inversion that does not include the centromere

Either the p or q arm is inverted

A

Paracentric Inversion

ABC O DEFG → ABC O DEFG ?? [TBF]

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Inversion that includes the centromere

Both the p or q arm is inverted

A

Pericentric Inversion

ABC O DEFG → ABC O DEFG ?? [TBF]

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Occurs when a chromosomal fragment attaches to a non-homologous chromosome

A

Translocation

Like inversions, translocations may or may not be harmful

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Chromosomal changes present in sperm or egg

A

Chromosomal Translocation

17
Q

Translocation where two non-homologous chromosomes exchange segments

A

Reciprocal Translocation

18
Q

Translocation caused by two particular chromosomes joining together

Only occurs with chromosomes: 13, 14, 15, 21, 22

Occurs when the long arms of two acrocentric chromosomes fuse at the centromere and the two short arms are lost

A

Robertsonian Translocation

A usual type of chromosome rearrangement

19
Q

Identify the Type of Aberration

Wolf-Hirschhorn Syndrome

also known as Pitt Syndrome

Caused by a ____ of a distal short arm of chromosome 4

A

Deletion

20
Q

Identify the Type of Aberration

Jacobsen Syndrome

also known as 11q terminal ____

A

Deletion

21
Q

Identify the Type of Aberration

Cat-eye Syndrome

Most often caused by a chromosome abnormality called an inverted ____ 22 ( ____ of the chromosome 22)

A

Duplication

22
Q

Identify the Type of Aberration

Edward’s Syndrome

Trisomy 18: Occurs when a baby is born with three copies of chromosome 18 instead of two

A

Duplication

23
Q

Identify the Type of Aberration

Patau Syndrome

Trisomy 13: Occurs when a baby is born an additional copy of all or part of chromosome 13

A

Duplication

24
Q

Identify the Type of Aberration

Hemophilia A

F8 gene (X chromosome) ____

A

Inversion

25
Q

Identify the Type of Aberration

____ Down Syndrome

Occurs as a ____ between chromosome 14 and 21

A

Translocation

26
Q

Down Syndrome

Trisomy 21: Occurs when a baby is born with three copies of chromosome 21

A

Duplication

27
Q

Types of Chromosomal Aberrations (4)

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

GENERAL BIOLOGY I (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions