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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

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

Duchenne muscular dystrophy pedigree chart

Fragile X pedigree and restriction fragment length
polymorphism (rflp) autoradiograph showing CGG
repeat expansion. Repeats of the base sequence CGG
are a characteristic of this chromosome
abnormality. The bands on the autoradiograph
represent fragments of the DNA of the Fragile X
chromosome which have been cut by enzymes at
specific base sequences.

Fragile X pedigree + rflp autoradiograph

Human chromosomes from a patient with Hereditary
Liability to Pressure Palsy (a lesion of a spinal
root or peripheral nerve resulting from
compression). There is a deletion in chromosome 17
(17p11.2), which has been highlighted using a
fluorescent cosmid probe (red) from the PMP gene.
The chromosome 11 centromeres are green. The
chromosomes have been highlighted with fluorescent
probes that bind to specific sequences of DNA.
Image by Dr John Crolla.

Pressure palsy, deletion c'some 17, cosmid

Diagnostic test for Fragile X syndrome. FMR1
expression in blood cells made visible with
antibodies against the FMR1 protein. The presence
of the FMR1 protein is made visible as red
staining. This shows red staining in cells of
normal individual.

Fragile X diagnostic test - normal

Human chromosomes at metaphase highlighted by
fluorescent probes that bind to specific sequences
of DNA. Centromere specific probes have been used
to determine the break-points in a translocation
between the X chromosomes and chromosome 13
(t(x;13). The X signal is red and 13 and 21
centromeres are green. This result shows that the
break-point in the long arm of the X is q11.
Image by Dr John Crolla.

Translocation shown using centromere probes

Down syndrome karyotype (formerly called trisomy
21 syndrome or mongolism), human male, 47,XY,+21.
This male has a full chromosome complement plus an
extra chromosome 21. Symptoms include a varying
degree of mental retardation, growth failure,
muscular hypotoicity, flay occiput, large tongue,
slanting eyesm, simian palmar crease, intestinal
and heart problems, and acute leukaemia. Older
survivors often develop Alzheimer's disease in
their fourth or fifth decade. The syndrome is
associated with advanced maternal age.

Down syndrome human karyotype 47,XY,+21

Chromosomes from a patient with isolated familial
aniridia. The chromosomes have been made
fluorescent with probes that bind to specific
sequences of DNA. A cosmid probe F02121 (red) shows
up the deletion in chromosome 11, and a green
fluorescent probe shows up the chromosome 11
centromeres.
This condition involves the developmental absence
of most of the iris. Its base is present on the
ciliary body, and often upsets the aqueous
outflow mechanism. Also called irideremia.
Image by Dr John Crolla.

Familial aniridia deletion shown by cosmid

Human chromosome highlighted by fluorescent probes
that bind to specific sequences of DNA. In this
FISH (fluorescence in situ hybridisation) study a
probe (red) from the Prader Willi and Angelman's
syndromes critical region (PSASCR) and a
chromosome 15 centromere specific probe (green)
show that the 15q.11>q13 duplication does not
include the PWASCR.
Image by Dr John Crolla.

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Turner's stndrome, centromere & cosmid probe

XYY syndrome karyotype 47,XYY

Duchenne muscular dystrophy pedigree chart

Fragile X pedigree + rflp autoradiograph

Pressure palsy, deletion c'some 17, cosmid

Fragile X diagnostic test - normal

Translocation shown using centromere probes

Down syndrome human karyotype 47,XY,+21

Familial aniridia deletion shown by cosmid

Prader Willi & Angelman's syndromes - probes

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More filters

Active filters:

Turner's stndrome, centromere & cosmid probe

XYY syndrome karyotype 47,XYY

Duchenne muscular dystrophy pedigree chart

Fragile X pedigree + rflp autoradiograph

Pressure palsy, deletion c'some 17, cosmid

Fragile X diagnostic test - normal

Translocation shown using centromere probes

Down syndrome human karyotype 47,XY,+21

Familial aniridia deletion shown by cosmid

Prader Willi & Angelman's syndromes - probes

Stay in the know

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