Inherited duplication of the short arm of chromosome 18p11.32–p11.31 associated with developmental delay/intellectual disability

Abstract excerpt

Duplications of 18p have been reported in the literature associated with a range of different abnormalities and also in patients with normal phenotypes. The majority of these reports are based solely on G-banded cytogenetic evaluation. The use of arrayCGH characterization has improved the ability to define regions of imbalance and is helping to identify potential underlying triplosufficiency of any duplicated...

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