The deletion is associated with intellectual disability, autism, neuropsychiatric disorder, and mild dysmorphism. It is inherited in a subset of the cases with full penetrance, but variable expressivity.
The duplication is associated with autistic spectrum disorder, neuropsychiatric disorders, and cognitive impairment.
MLPA is utilized to detect this deletion/duplication.
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Should not be ordered in conjunction with chromosomal microarray analysis as the CMA is able to detect this microdeletion/duplication syndrome.
If there are questions regarding this test, please contact Client Services at 617-553-5880 or [email protected]