IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T1
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Chromosome Parts:

• p arm – the smaller of the

two arms
– p stands for petite
• q arm – the longer of the
two arms
• Bands are numbered from
centromere outward

Teena Koshy Ph.D.

06-Jan-2021 Department of Human Genetics, SRFBMS&T
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

How do we classify human

chromosomes ?

Teena Koshy Ph.D.

06-Jan-2021 Department of Human Genetics, SRFBMS&T
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

1. Based on Size

2. Based on position of centromere

Teena Koshy Ph.D.

06-Jan-2021 Department of Human Genetics, SRFBMS&T
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Based on Size

Largest to smallest

Teena Koshy Ph.D.

06-Jan-2021 Department of Human Genetics, SRFBMS&T
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Based on position of centromere

i. Metacentric
ii. Submetacentric
iii. Acrocentric

Teena Koshy Ph.D.

06-Jan-2021 Department of Human Genetics, SRFBMS&T6
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Group A: Large, Metacentric

I band
4 bands
Large negative
region

5 bands
5 bands

1 2 3
Teena Koshy Ph.D.
Department of Human Genetics, SRFBMS&T7
*
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

1 2
3

1
2
3

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T8
*
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Group B: Large, Sub-metacentric

Shoulder band

Belly band

4 5
Teena Koshy Ph.D.
Department of Human Genetics, SRFBMS&T9
*
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
10
*
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Group C: Medium sized metacentric or sub-metacentric

Prominent I band

Large negative
region in the middle

2 bands of equal
size and staining
intensity

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
11
*
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

6 7

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
12
*
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Group C: Medium sized metacentric or sub-metacentric

Narrow centromere
Three bands
Two bands of Two bands of equal of equal width
which lower one width and staining and staining
intensity intensity
is prominent

8 9 10

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
13
*
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

9
8 10
10
8 9

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
14
*
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Group C: Medium sized metacentric or sub-metacentric

Broad belly band close to telomere

Broader belly band close to centromere

11 12
Teena Koshy Ph.D.
Department of Human Genetics, SRFBMS&T
15
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 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

11

12
12
11

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
16
*
 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Group D: Medium sized acrocentric with satellites

Three
prominent Two
bands prominent
bands

13 14 15

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
17
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 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

13
14
15

13 14 15

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
18
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 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Group E: Relatively short metacentric or submetacentric

Prominent Prominent bands

centromere at centromere
Prominent
thick band at and telomere
Two light
bands telomere

16 17 18
Teena Koshy Ph.D.
Department of Human Genetics, SRFBMS&T
19
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 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

16

18
17

17 18
16

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
20
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 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Group F: Short metacentric chromosomes

Prominent band
Prominent centromere

19 20
Teena Koshy Ph.D.
Department of Human Genetics, SRFBMS&T
21
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 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

19 20

20
19

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
22
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 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Group G: Short acrocentric with satellites

The Y chromosome bears no satellites

2 indistinct
bands close
Broad band close to the
to centromere telomere
light band almost in
the center of
Y
21 22

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
23
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 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Group C: Medium sized metacentric or sub-metacentric

Two bands, one on the q arm and one on the p arm, equidistant from the centromere

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
24
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 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

22 Y
X 21
22
21

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
25
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 IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
26
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IV - Cytogenetic techniques and interpretation of chromosomal abnormalities

A Karyotype

Teena Koshy Ph.D.

Department of Human Genetics, SRFBMS&T
27