Karyotypes - Various

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Karyotype images
This PowerPoint file contains a number of images of karyotypes that may be useful for
teaching of genetics concepts.
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total number of chromosomes,
sex chromosome constitution,
anomalies/variants.
46,XY
47,XX,+21
47,XXX
69,XXY
45,XX,der(13;14)(q10;q10)
46,XY,t(2;4)(p12;q12)
46,XX,del(5)(p25)
46,XX,dup(2)(p13p22)
46,XY,inv(11)(p15q14)
46,XY,fra(X)(q27.3)
46,XY/47,XXY
The Karyotype: an international description

total number of chromosomes,
sex chromosome constitution,
anomalies/variants.
46,XY
47,XX,+21 Trisomy 21 (Down syndrome)
47,XXX Triple X syndrome
69,XXY Triploidy
45,XX,der(13;14)(p11;q11) Robertsonian translocation
46,XY,t(2;4)(p12;q12) Reciprocal translocation
46,XX,del(5)(p25) Deletion tip of chromosome 5
46,XX,dup(2)(p13p22) Duplication of part of short arm Chr 2
46,XY,inv(11)(p15q14) Pericentric inversion chromosome 11
46,XY,fra(X)(q27.3) Fragile X syndrome
46,XY/47,XXY Mosaicism normal/Klinefelter syndrome
The Karyotype: an international description

Fig. 2.5 ©Scion Publishing Ltd
Redrawn from ISCN 2005 with permission from S. Karger AG, Basel.
Nomenclature of cytogenetic
bands.
The ideograms show ideal G-banding
patterns at 550 band resolution. Major
bands are labelled 1,2,3, etc., going
from centromere to telomere.
Major band 11q1 (11q means the long
arm of chromosome 11, 11p the short
arm) is divided into sub-bands 11q11 –
11q14, and at the highest resolution
11q14 splits into 11q14.1 – 11q14.3.

Karyotype showing trisomy 21 (47,XX,+21)

Karyotype of Isabel Ingram.
Although Isabel will never be able to have children normally, treatment with estrogens can allow her to develop
normal secondary sex characteristics and greatly assist her personal and social life. Modern reproductive
technology has allowed some Turner syndrome patients to bear children using donor eggs. Treatment with
growth hormone can result in improved growth and final height.

G-banded karyotypes of Ellen’s chromosomes.
There is a balanced translocation. Chromosomes 1 and 22 have exchanged segments (arrows). The
translocation is described as 46,XX,t(1:22)(q25;q13)

G-banded karyotype of baby Elizabeth.
She has inherited Ellen’s normal chromosome 1 but her translocated chromosome 22 (arrow). She is trisomic for
the portion of chromosome 1 distal to 1q25, the translocation breakpoint, and monosomic for chromosome 22
distal to 22q13.

How the 1;22
translocation in Ellen
Elliot originated.
Chromosome 1 and 22 broke at
the positions indicated by the
arrows, and the cell’s DNA
repair machinery rejoined the
ends to form the two derivative
chromosomes as shown. The
derivative chromosomes are
labelled der(1) and der(22).

A Robertsonian translocation.
The inset shows how this common type of chromosome abnormality arises. The short arms of all the acrocentric
chromosomes (13, 14, 15, 21, 22) contain similar DNA. Inappropriate recombination between two non-homologous
chromosomes produces the fusion chromosome, which functions as a normal single chromosome in mitosis. The
small acentric fragment comprising the two distal short arms is lost.

22q11 metaphase FISH.
The green spots are a control probe, used to identify the two copies of chromosome 22 and confirm that
hybridization has taken place. The red spots are the TUPLE1 probe. Only one of the two copies of chromosome
22 contains the sequence that hybridizes to this probe.

Interphase FISH test for trisomy 21.
The chromosome 21 probe is labelled with a red fluorochrome and a control probe (for chromosome 18) is
labelled in green. The two green dots show that the hybridization has worked for this cell, and the three red
dots show that there are three copies of chromosome 21. The clinical report is based on examining a large
number of cells. For prenatal diagnosis a mix of differently coloured probes from chromosomes 13, 18, 21, X
and Y is often used.

Array-CGH result on the patient shown in Figure 4.3.
The whole genome was surveyed, but only results for the probes from chromosome 12 are shown. There is a
duplication involving 39 contiguous clones from 12q24.1.

47,XX,+21

47,XX,+13

47,XX,+18

45,X

47,XXY

47,XYY

45,XX,der(14;21)(q10;q10)

46,XX,t(4;15)(q2?1.3;q13)

46,XX,t(9;22)(q34;q11)

ish der(9)(ABL-),der(22)(BCRsp+conABLsp+,ABLsp+,BCRsp+)

46,Y,fra(X)(q27.3)

Fragile X Chromosome

47,XX,+?mar

46,X,r(X)

ins(22;9)(q11;q13q34)

46,XY.ish del(15)(q11.2q11.2)(SNRPN-)

46,XX.ish del(22)(q11.2q11.2)(TUPLE1-)

46,X,del(X)(p21.1)

46,XX,del(4)(p15.2p16.?2)

ish del(7)(q11.23q11.23)(ELN-)
Williams syndrome

Trisomy 21: 47,XX,+21
three separate copies of chromosome 21

Three copies of all the chromosomes: triploidy

Different chromosome banding resolutions can resolve bands, sub-bands and sub-sub-bands
Chromosome 1
Human chromosome
banding patterns
seen on light
microscopy

FISH - fluorescence in situ hybridisation

Example of FISH

Trisomy 21 amniocyte

Chromosomes seen through a microscope

Karyotypes - Various

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