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22q13 Deletion Syndrome / Phelan-McDermid Syndrome is diagnosed by studying a person’s chromosomes, usually in a blood sample. The chromosome deletion is often difficult to see by routine chromosome studies; therefore, a special test called FISH (fluorescence in situ hybridization), is often used.
In FISH studies, a DNA probe that is specific for the tip of the long arm of Chromosome 22 is used to see if the 22q13 segment is present or absent. If your child has Phelan-McDermid Syndrome, the 22q13 region will be present on the normal chromosome but absent on the deleted chromosome. The deletion can also be detected in cells from skin or in cells obtained for prenatal diagnostic testing.
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