Method for diagnosing autism spectrum disorder

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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C435S091200, C536S023100, C536S024300

Reexamination Certificate

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08003326

ABSTRACT:
The present invention provides methods of diagnosing and/or predicting autism spectrum disorder comprising determining the presence of microdeletions and microduplications on chromosomes 15 and 16.

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Ballif, B.C. et al., Nature Genetics, 39(9):1071-1073 (2007). “Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.”
Kumar, R.A. et al., HMG Advance Access, 2007. “Recurrent 16p11.2 microdeletions in autism.”
Finelli, P. et al., J Med Genet, 41:e90 (2004). “FISH characterisation of an identical (16) (p11.2p 12.2) tandem duplication in two unrelated patients with autistic behaviour.”
Ghebranious, N. et al., American Journal of Medical Genetics Part A, 143A:1462-1471 (2007). “A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation.”
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