Chromosome 17q21.31 duplication syndrome

Summary

The syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. Only five patients have been reported to date. All patients have behavioral disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. [from SNOMEDCT_US]

Available tests

9 tests are in the database for this condition.

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Clinical tests (9 available)

Cytogenetics Tests

Fluorescence in situ hybridization (FISH) (1)

Molecular Genetics Tests

Reviews

Clinical resources

Molecular resources

Coriell Institute for Medical Research

Consumer resources

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