Dataset Information

Longitudinal report of child with de novo 16p11.2 triplication.

ABSTRACT: 16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above-average physical growth.

SUBMITTER: Wallace AS

PROVIDER: S-EPMC5771938 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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Publications

Longitudinal report of child with de novo 16p11.2 triplication.

Wallace Arianne S AS Hudac Caitlin M CM Steinman Kyle J KJ Peterson Jessica L JL DesChamps Trent D TD Duyzend Michael H MH Nuttle Xander X Eichler Evan E EE Bernier Raphael A RA

Clinical case reports 20171206 1

16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above-average physical growth. ...[more]

PMID: 29375855

Dataset Information

Longitudinal report of child with de novo 16p11.2 triplication.

Publications

Longitudinal report of child with de novo 16p11.2 triplication.

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