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....
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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
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University of Wisconsin - Madison Waisman Center Cytogenetics Lab