Human Chromosomes in health and disease - a virtual tour

Dr. Krishnaja A.P.

17-2-2010.
The starting point ….

Under 20X this is how the metaphases appear.

A little more magnified - under 40X. Metaphases in different stages of condensation

Finally the magic wand - the restored beauties under 100 X, the usual magnification
for detailed analysis. Conventional Giemsa staining / Solid staining.
 Enter the Banding era. C-banding

G-banding and then came high resolution banding ….

G- banded metaphases.
G- banded metaphases.
G- banded metaphases.
Endoreduplication – banded
G- Banded Karyotype. 46,XX

45, XX,-9,-14,+t(9;14)
45, XY,-13,-14,+t(13;14)

47, XXX
47, XYY

G- Banded Karyotype. 46,XX

 The new arrival - FISH magic in multi coloured hues.
In situ hybridization. Enzymatic detection with HRP/Anti-Digoxigenin and DAB

Painted chromosomes. Chromosome 16

Painted chromosomes. Chromosome X

 47,XY,+21 (Trisomy 21)

46,XY,-15,+t(15;21),+21

46,XX,t(19;20)(p13.1:q13.3)
45,X(32%)/ 46,XX(6%)/ 46,Xt(X;X)(p;q) or 46,X,t(Xp+?)(62%)

Late replicating X chromosome

45,X(32%)/ 46,XX(6%)/ 46,Xt(X;X)(p;q) or 46,X,t(Xp+?)(62%)

46,XX,del(16)(q24)
 Chromosome 16q23 fragile site. Fra 16(q23)

Small marker chromosomes. 47,XX,+mar.

Chromosome Variants: Long Y chromosome. 46,XYq+

Chromosome Variants: Chromosome 16 polymorphism. 46,XY,16qh+

46, XX , 22s+ Satellite associations – D & G group chromosomes

Polyploidy
Mitotic division abnormalities / mitotic division infidelity / mitotic instability
 Endoreduplication

Near Haploid cells

 Premature separation of sister chromatids

Different Avtars

Elongated chromosomes Chromosome pulverization

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