Thursday, April 14, 2011

Identify

So how is it determined if someone has Cat Eye Syndrome? One way is through a genetic type of testing which is called FISH (Fluorescence in Situ Hybridisation). “FISH is a relatively new molecular cytogenetics technology utilizing fluorescently labeled DNA probes to detect or confirm gene or chromosome abnormalities that are generally either beyond the resolution of routine cytogenetics or can be applied to samples that are unsuitable for conventional cytogenetics analysis” (HMDS, 2005, pg1). Syndromes such as coloboma, anal atresia, and preauricular pits/tags (go into more detail later on) can lead to a Cat Eye Syndrome diagnose. However, the FISH test is what narrows it down to Cat Eye Syndrome specifically.

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