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Karyotypes - Various
- 1. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
www.geneticseducation.nhs.uk
Karyotype images
This PowerPoint file contains a number of images of karyotypes that may be useful for
teaching of genetics concepts.
You may use these slides and their contents for non-commercial educational purposes.
More slides will be added to this series shortly.
- 2. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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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
- 3. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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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
- 4. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
www.geneticseducation.nhs.uk
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.
- 5. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Fig. 2.9 ©Scion Publishing Ltd
- 6. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Fig. 2.11 ©Scion Publishing Ltd
Karyotype showing trisomy 21 (47,XX,+21)
- 7. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Fig. 2.13 ©Scion Publishing Ltd
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.
- 8. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Fig. 2.14 ©Scion Publishing Ltd
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)
- 9. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Fig. 2.15 ©Scion Publishing Ltd
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.
- 10. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Fig. 2.16 ©Scion Publishing Ltd
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).
- 11. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Fig. 2.20 ©Scion Publishing Ltd
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.
- 12. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Fig. 4.14 ©Scion Publishing Ltd
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.
- 13. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Fig. 4.15 ©Scion Publishing Ltd
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.
- 14. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Fig. 4.16 ©Scion Publishing Ltd
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.
- 15. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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47,XX,+21
- 16. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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47,XX,+13
- 17. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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47,XX,+18
- 18. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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45,X
- 19. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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47,XXY
- 20. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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47,XYY
- 21. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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45,XX,der(14;21)(q10;q10)
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46,XX,t(4;15)(q2?1.3;q13)
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46,XX,t(9;22)(q34;q11)
- 24. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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ish der(9)(ABL-),der(22)(BCRsp+conABLsp+,ABLsp+,BCRsp+)
- 25. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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46,Y,fra(X)(q27.3)
- 26. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Fragile X Chromosome
- 27. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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47,XX,+?mar
- 28. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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46,X,r(X)
- 29. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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ins(22;9)(q11;q13q34)
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46,XY.ish del(15)(q11.2q11.2)(SNRPN-)
- 31. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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46,XY.ish del(15)(q11.2q11.2)(SNRPN-)
- 32. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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46,XX.ish del(22)(q11.2q11.2)(TUPLE1-)
- 33. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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46,XX.ish del(22)(q11.2q11.2)(TUPLE1-)
- 34. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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46,X,del(X)(p21.1)
- 35. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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46,XX,del(4)(p15.2p16.?2)
- 36. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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ish del(7)(q11.23q11.23)(ELN-)
Williams syndrome
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- 38. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Trisomy 21: 47,XX,+21
three separate copies of chromosome 21
- 39. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Three copies of all the chromosomes: triploidy
- 40. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Different chromosome banding resolutions can resolve bands, sub-bands and sub-sub-bands
Chromosome 1
Human chromosome
banding patterns
seen on light
microscopy
- 41. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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FISH - fluorescence in situ hybridisation
- 42. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Example of FISH
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Trisomy 21 amniocyte
- 44. © 2009 NHS National Genetics Education and Development Centre Supporting Genetics Education for Health
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Chromosomes seen through a microscope