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Cosmid probes
Cosmid (unique sequence) probes bind to specific small segments
of certain chromosomes. These probes are useful in microdeletion studies,
where the presence or absence of a region of a chromosome can be diagnostic
of certain syndromes or abnormalities.
Some examples of microdeletion syndrome probes:
13 specific 5p specific S-10
DiGeorge
The above probes all show intact normal target chromosomes. On the S-10
and DiGeorge photos, one signal on each chromosome is the region in question,
while the other signal is a control region
somewhere else on the chromosome which acts as a locator in case of a deletion
of the first signal....
Elastin Williams Syndrome probe
Here, the right chromosome is intact, showing the target (upper) signal
and the control signal. The left chromosome shows only the control signal,
indicating a deletion of the Elastin Williams region. [note: the two chromosomes
are "head to toe"]
Probes purchased from Oncor of Gaithersburg, MD
University of Wisconsin - Madison
Waisman Center Cytogenetics Lab

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