Balanced translocation 45,XY,t(13;14)

Fragile X metaphase spread

Unbalanced translocation 46,XY,t(14;21)

Human metaphase, translocation, cosmid probe

Fragile X pedigree + rflp autoradiograph

Translocation shown using centromere probes

Genetics frame of reference - the size of various genetic components, including DNA, a base pair, various sizes of deletions, chromosomes and genes are listed and compared with more familiar objects such as the Solar System, planets, cities, hospitals, wards, and so on.

Turner's syndrome, centromere & cosmid probe

Whole arm translocation, centromere probes

Pericentric chromosome inversion

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Human chromosomes highlighted by fluorescent
probes that bind to specific sequences of DNA.
This patient has Turner's syndrome and a
45,X/46,Xr(X) mosaic karyotype. The X chromosome
centromere probe (green) shows that the small ring
chromosome is of X origin and the XIST cosmid
(red) shows that XIST is deleted in this r(X).
(See also B0000316C)
Image by Dr John Crolla.

Turner's stndrome, centromere & cosmid probe

XYY syndrome karyotype. This male has an extra Y chromosome.

XYY syndrome karyotype 47,XYY

Metaphase spread of normal human male chromosomes, showing Y-banding. Light microscope.

Normal human male metaphase, Y banding

Inversion in the X chromosome 46,X,inv(X)9p21.2?q22.3. One of this pair of human X chromosomes contains a segment that has been broken off then rejoined the opposite way round.

Inversion in X chromosome

Pedigree chart of Duchenne muscular dystrophy,
constructed from restriction length polyorphism
fragment (RFLP) studies.

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Wessex Reg. Genetics Centre

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Works

Turner's stndrome, centromere & cosmid probe

XYY syndrome karyotype 47,XYY

Normal human male metaphase, Y banding

Inversion in X chromosome

Duchenne muscular dystrophy pedigree chart

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Wessex Reg. Genetics Centre

Images

Works

Turner's stndrome, centromere & cosmid probe

XYY syndrome karyotype 47,XYY

Normal human male metaphase, Y banding

Inversion in X chromosome

Duchenne muscular dystrophy pedigree chart

Wellcome Collection

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