KaryotypesandKaryotyping
  Chromosomes in a cell are visible only when  the cell is dividing At metaphase stage chromosomes are  fully condensed ...
 Thehomologous pairs are then placed in order of descending size. The sex chromosomes are placed at the end.A picture of...
 Each chromosome should be individually  located. A detailed comparison of banding pattern is  mandatory between the two...
A “normal” human carries 23 PAIRS of chromosomes (1 set came from the mother, 1 set came from the father)    22 of these...
 To label a karyotype correctly, first list the  number of chromosomes found in the  karyotype. Ex. 46 Secondly, list th...
Normal   Human Female: 46, XXNormal Human Male: 46, XY
 Size Human chromosomes range in length from 51 million to 245 million base pairs. They are numbered from largest to smal...
Position of centromere metacentric submetacentric acrocentric
 Banding pattern  each chromosome has a unique banding pattern  Chromosomal bands are alternating light and dark  segment...
   Group A: chromosomes 1,2,3             largest             metacentric   Group B: chromosomes 4,5             large  ...
   Group D: chromosomes 13, 14, 15              medium              acrocentric   Group E: chromosomes 16, 17, 18       ...
 Allows any region to be identified by a descriptive address (chromosome number, arm, region, and band) Standard nomencl...
    NumericalExtra chromosomemissing chromosomes       Structural     Translocations     Inversions      Deletions      ...
   Polyploidy – extra set of the entire genome.          (3n, 4n etc)   Aneuploidy – the number of chromosomes is    no...
Translocationswhen a portion of a chromosome breaks off and  rejoins with another chromosome, a common  occurrence in leuk...
Translocation   Deletion               Inversion      Isochromosome                           Insertion             Ring  ...
The malignant cells in many patients with  leukemia, lymphoma, or another malignant  hematologic disease have acquired clo...
 The  marrow chromosomes were more  difficult to grow, contracted chromosomes  with ill defined morphology Assisting in ...
-  8;14 translocation - 4;11 translocation t(11q23) ALL in infants) - 9;22 translocation - 1;19 translocation in pre-...
 12;21  is the most common translocation and  pretends a good prognosis. 4;11 is the most common in children under 12  m...
 There  are substantial differences between  children and adults with ALL in the  frequencies of some recurring  abnormal...
 The t(12;21), which is detectable only by FISH or  polymerase chain reaction (PCR) analysis, is  observed in about 25 pe...
 certaintranslocations, such as  t(4;11) and t(9;22), hyperdiploidy (50 to 60 chromosomes) favorable outcome  t(12;21), t...
 Case no. 78 Year-old Female Leukoerythroblastic Film Indication :  Myelodysplasia/Myeloproliferative syndrome
 Report Chromosome     analysis of the cultured bone  marrow cells reveals an abnormal karyotype  with an additional cop...
 Report 47,XXdel(6),der(12)t(1;12),+21 There  is deletion of long arm of chromosome  6 and an unbalanced translocation ...
 The  characteristic abnormality in CML is  t(9;22)(q34;q11.2) The classic t(9;22)(q34;q11.2) rearrangement  occurs in 9...
 Case 70   Year-old Women known CML.
 46XX,t(1;12)(p36;q15),t(9;22)(q34;q11)[20] There is a Philadelphia chromosome. All cells also have a translocation betw...
 The single most important prognostic factor in  AML is cytogenetics, or the chromosomal  structure of the leukemic cell....
      t(8;21)(q22;q22)       t(15;17)(q22;q12   Inv(16) and t(16;16)    Rearrangements of 11q23       t(3;3) and inv(3...
FAB subtypes show consistent chromosome changes.        t(8;21)(q22;q22        93% belong to the M2 and the remaining 7% ...
 Favorable t(8;21), t(15;17), inv(16) Intermediate   (Most patients) normal, +8, +21, +22, del(7q), del(9q), Adverse -5...
7  Year-old Girl new AML. Indication :AML unspecified.
 46XX,inv(16)(p13q22)[4]/47,+22[6] Female   karyotype with a pericentric  inversion of chromosome 16 in all ten cells  e...
 Approximately  80% of individuals with CLL  have acquired chromosomal abnormalities  within their malignant clone and ca...
 Deletion 13q is found in ~55% of  patients, making it the most common  cytogenetic abnormality in CLL Deletion 11q is i...
  Trisomy 12 is found in ~16% of CLL, and normal cytogenetics ~18% of CLL patients As intermediate prognostic indicators...
A  complex cytogenetic karyotype can be  identified in ~16% of patients and is  commonly associated with poor prognostic ...
47,XY+5(Del)9
Karyotypes and Karyotyping
Karyotypes and Karyotyping
Karyotypes and Karyotyping
Karyotypes and Karyotyping
Karyotypes and Karyotyping
Karyotypes and Karyotyping
Karyotypes and Karyotyping
Karyotypes and Karyotyping
Karyotypes and Karyotyping
Karyotypes and Karyotyping
Karyotypes and Karyotyping
Upcoming SlideShare
Loading in …5
×

Karyotypes and Karyotyping

7,317 views
6,969 views

Published on

This is the poerpoint slideshow of Dr. Saima Mansoor Bugvi.

Published in: Health & Medicine
0 Comments
8 Likes
Statistics
Notes
  • Be the first to comment

No Downloads
Views
Total views
7,317
On SlideShare
0
From Embeds
0
Number of Embeds
8
Actions
Shares
0
Downloads
524
Comments
0
Likes
8
Embeds 0
No embeds

No notes for slide

Karyotypes and Karyotyping

  1. 1. KaryotypesandKaryotyping
  2. 2.  Chromosomes in a cell are visible only when the cell is dividing At metaphase stage chromosomes are fully condensed and easy to see. Metaphase spreads are selected and photographed in order to analyze The chromosomes are then arranged in homologous pairs.
  3. 3.  Thehomologous pairs are then placed in order of descending size. The sex chromosomes are placed at the end.A picture of chromosomes arranged in this way is known as a karyotype.
  4. 4.  Each chromosome should be individually located. A detailed comparison of banding pattern is mandatory between the two homologues. Telomeres are specially important. To ensure the best interpretation, it is important to provide some clinical information.
  5. 5. A “normal” human carries 23 PAIRS of chromosomes (1 set came from the mother, 1 set came from the father)  22 of these sets are called autosomes (or “self chromosomes”)  1 set are the sex chromosomes  A female carries two X chromosomes (XX)  A male carries an X chromosome and a Y chromosome (XY) Mazen Zaharna Molecular Biology 1/2009
  6. 6.  To label a karyotype correctly, first list the number of chromosomes found in the karyotype. Ex. 46 Secondly, list the type of sex chromosomes found in the karyotype. Ex. XX Lastly, list the any abnormalities at the appropriate chromosome number.
  7. 7. Normal Human Female: 46, XXNormal Human Male: 46, XY
  8. 8.  Size Human chromosomes range in length from 51 million to 245 million base pairs. They are numbered from largest to smallest
  9. 9. Position of centromere metacentric submetacentric acrocentric
  10. 10.  Banding pattern each chromosome has a unique banding pattern Chromosomal bands are alternating light and dark segments that result from various staining procedures. two strong bands on theP-armThree strong bands near the bottom of the q- arm The band width and the order of bands is characteristic of a particular chromosome - a trained cytogeneticist can identify each chromosome (1,2,3...22, X and Y) by observing its banding pattern under the microscope.
  11. 11.  Group A: chromosomes 1,2,3 largest metacentric Group B: chromosomes 4,5 large submetacentric Group C: chromosomes 6,7,8,9,10,11,12 medium submetacentric
  12. 12.  Group D: chromosomes 13, 14, 15 medium acrocentric Group E: chromosomes 16, 17, 18 short metacentric or submetacentric Group F: chromosomes 19, 20 short metacentric Group G: chromosomes 21, 22 very short acrocentric Mazen Zaharna Molecular Biology 1/2009
  13. 13.  Allows any region to be identified by a descriptive address (chromosome number, arm, region, and band) Standard nomenclature is to include the translocation in one set of parentheses and the breakpoints in a second set of parentheses. Thus, this specific translocation would be denoted as t(9;22)(q34;q11.2).
  14. 14.  NumericalExtra chromosomemissing chromosomes  Structural Translocations Inversions Deletions Duplications Mazen Zaharna Molecular Biology 1/2009
  15. 15.  Polyploidy – extra set of the entire genome.  (3n, 4n etc) Aneuploidy – the number of chromosomes is not a multiple of the normal haploid number.  Monosomy  one member of a chromosome pair is missing, (2n-1)  Trisomy  one chromosome set consists of 3 copies of a chromosome, (2n+1 Mazen Zaharna Molecular Biology 1/2009
  16. 16. Translocationswhen a portion of a chromosome breaks off and rejoins with another chromosome, a common occurrence in leukemias).InversionsChromosomal inversion (inv) requires two breaks in the same chromosome with rotation of the intervening material. Deletions part of the chromosome has been removed Duplications part of the chromosome is duplicated
  17. 17. Translocation Deletion Inversion Isochromosome Insertion Ring Derivative chromosome chromosome
  18. 18. The malignant cells in many patients with leukemia, lymphoma, or another malignant hematologic disease have acquired clonal chromosomal abnormalities. Some specific cytogenetic abnormalities are closely, and sometimes uniquely, associated with morphologically and clinically distinct subsets of leukemia or lymphoma, as well as with their prognosis.
  19. 19.  The marrow chromosomes were more difficult to grow, contracted chromosomes with ill defined morphology Assisting in the diagnosis and classification of certain malignant hematological disorders Evaluation of prognosis in patients with certain malignant hematologic disorders Monitoring effects of treatment Monitoring patients in remission
  20. 20. - 8;14 translocation - 4;11 translocation t(11q23) ALL in infants) - 9;22 translocation - 1;19 translocation in pre-B cell ALL - 12;21 translocation in precursor B ALL - Hyperdiploidy - Hypodiploidy - 9p abnormalities in ALL
  21. 21.  12;21 is the most common translocation and pretends a good prognosis. 4;11 is the most common in children under 12 months and pretends a poor prognosis
  22. 22.  There are substantial differences between children and adults with ALL in the frequencies of some recurring abnormalities, including the following: The t(9;22) is observed in about 2 to 5 percent of children compared with about 30 percent of adults
  23. 23.  The t(12;21), which is detectable only by FISH or polymerase chain reaction (PCR) analysis, is observed in about 25 percent of children with B- lineage leukemia , compared with about 3 percent of adults. A hyperdiploid karyotype is found in 30 to 40 percent of children compared with 2 to 10 percent of adults t(4;11) is present in up to 60 percent of infants younger than 12 months, but is rarely observed in adult ALL patients
  24. 24.  certaintranslocations, such as t(4;11) and t(9;22), hyperdiploidy (50 to 60 chromosomes) favorable outcome t(12;21), t(1;19) treatment failure even when using intensive chemotherapy
  25. 25.  Case no. 78 Year-old Female Leukoerythroblastic Film Indication : Myelodysplasia/Myeloproliferative syndrome
  26. 26.  Report Chromosome analysis of the cultured bone marrow cells reveals an abnormal karyotype with an additional copy of chromosome 8 in all ten cells examined. 07 of these ten cells have in addition an extra copy of chromosome 19. Trisomy 8 is a common finding in myeloid disorders including MDS and MPD, but is not specific for any particular disease type. This result shows evidence clonal evolution.
  27. 27.  Report 47,XXdel(6),der(12)t(1;12),+21 There is deletion of long arm of chromosome 6 and an unbalanced translocation between the long arms of chromosome 1 and 12. This has resulted in partial Trisomy for the long arm of chromosome 1 and partial monosomy for the chromosome 6. AML in children with Down Syndrome is recognised as a distinct identity. Both dup(1q) and del(6q) are frequent imbalances in Downs Syndrome cases of AML.
  28. 28.  The characteristic abnormality in CML is t(9;22)(q34;q11.2) The classic t(9;22)(q34;q11.2) rearrangement occurs in 90-95% of chronic myelogenous leukemia (CML). Karyotype changes associated with increase of fibers in Ph 1-positive cases of CML were trisomy 8 and 19, +Ph1, t (1; 11), and i (17q). Ph 1-positive CML patients with additional karyotype changes had a significantly shorter survival than Ph 1-positive patients without additional chromosome aberrations.
  29. 29.  Case 70 Year-old Women known CML.
  30. 30.  46XX,t(1;12)(p36;q15),t(9;22)(q34;q11)[20] There is a Philadelphia chromosome. All cells also have a translocation between the short arm of chromosome 1 and the long arm of chromosome 12.
  31. 31.  The single most important prognostic factor in AML is cytogenetics, or the chromosomal structure of the leukemic cell. Certain cytogenetic abnormalities are associated with very good outcomes (for example, the (15;17) translocation in acute promyelocytic leukemia) About half of AML patients have "normal" cytogenetics; they fall into an intermediate risk group. A number of other cytogenetic abnormalities are known to associate with a poor prognosis and a high risk of relapse after treatment.
  32. 32.  t(8;21)(q22;q22) t(15;17)(q22;q12 Inv(16) and t(16;16) Rearrangements of 11q23 t(3;3) and inv(3) t(6;9) t(1;22) Chromosomal gain and loss
  33. 33. FAB subtypes show consistent chromosome changes. t(8;21)(q22;q22 93% belong to the M2 and the remaining 7% are M4 t(15;17)(q22;q12 diagnostic of M3 Inv(16) and t(16;16) Inversion or deletion of chromosome 16 is diagnostic of eosinophilia in association with M4 Rearrangements of 11q23 Deletions of 11q are frequently associated with M5
  34. 34.  Favorable t(8;21), t(15;17), inv(16) Intermediate (Most patients) normal, +8, +21, +22, del(7q), del(9q), Adverse -5, -7, del(5q), abnormal 3q, complex karyotype (> 3 -5 abnormalities)
  35. 35. 7 Year-old Girl new AML. Indication :AML unspecified.
  36. 36.  46XX,inv(16)(p13q22)[4]/47,+22[6] Female karyotype with a pericentric inversion of chromosome 16 in all ten cells examined. Six of these cells also have an extra copy of chromosome 22. Inv(16) is most often reported in AML M4 with eosinophilia and is usually associated with a favourable prognosis. Additional abnormalities, such as trisomy 22, can be detected at diagnosis but do not appear to affect the prognosis.
  37. 37.  Approximately 80% of individuals with CLL have acquired chromosomal abnormalities within their malignant clone and can be categorized into five prognostic groups accordingly: deletion 13q (median survival, 133 months) deletion 11q (median survival, 79 months) trisomy 12 (median survival, 114 months) normal cytogenetics (median survival, 111 months deletion 17p (median survival, 32 months)
  38. 38.  Deletion 13q is found in ~55% of patients, making it the most common cytogenetic abnormality in CLL Deletion 11q is identified in ~18% of CLL patients and is associated with several adverse prognostic factors including extensive lymphadenopathy, unmutated IgHV, advanced disease at diagnosis, poor response to treatment, and shorter progression free survival
  39. 39.  Trisomy 12 is found in ~16% of CLL, and normal cytogenetics ~18% of CLL patients As intermediate prognostic indicators Deletion 17p is found in ~7% of CLL patients and confers the highest risk poor prognostic indicator. Deletion 17p is a poor prognostic factor
  40. 40. A complex cytogenetic karyotype can be identified in ~16% of patients and is commonly associated with poor prognostic features Reciprocal chromosome translocations are described but rare in CLL
  41. 41. 47,XY+5(Del)9

×