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Article

Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families.

International journal of molecular sciences - 7 Feb 2021

Baldwin Isaac, Shafer Robin L, Hossain Waheeda A, Gunewardena Sumedha, Veatch Olivia J, Mosconi Matthew W, Butler Merlin G

Abstract excerpt

The 15q11.2 BP1-BP2 deletion (Burnside-Butler) syndrome is emerging as the most common cytogenetic finding in patients with neurodevelopmental or autism spectrum disorders (ASD) presenting for microarray genetic testing. Clinical findings in Burnside-Butler syndrome include developmental and motor delays, congenital abnormalities, learning and behavioral problems, and abnormal brain findings. To better define...

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Identifiers

PMID: 33562221
DOI: 10.3390/ijms22041660
PMCID: PMC7914695

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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