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Article

Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.

Cold Spring Harbor molecular case studies - 1 Dec 2020

Osei-Owusu Ikeoluwa A, Norris Alexis L, Joynt Anya T, Thorpe Jeremy, Cho Soonweng, Tierney Elaine, Schmidt Jonathan, Hagopian Louis, Harris Jacqueline, Pevsner Jonathan

Abstract excerpt

Chromosomal structural variation can cause severe neurodevelopmental and neuropsychiatric phenotypes. Here we present a nonverbal female adolescent with severe stereotypic movement disorder with severe problem behavior (e.g., self-injurious behavior, aggression, and disruptive and destructive behaviors), autism spectrum disorder, severe intellectual disability, attention deficit hyperactivity disorder, and global...

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Identifiers

PMID: 33335013
DOI: 10.1101/mcs.a005884
PMCID: PMC7784495

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