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Article

Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report.

BMC psychiatry - 22 Apr 2020

Murphy Melissa M, Burrell T Lindsey, Cubells Joseph F, Epstein Michael T, Espana Roberto, Gambello Michael J, Goines Katrina, Klaiman Cheryl, Koh Sookyong, Russo Rossana Sanchez, Saulnier Celine A, Walker Elaine, Mulle Jennifer Gladys

Abstract excerpt

BACKGROUND: 3q29 deletion syndrome is associated with a range of medical, neurodevelopmental, and psychiatric phenotypes. The deletion is usually de novo but cases have been reported where the deletion is inherited from apparently unaffected parents. The presence of these unaffected or mildly affected individuals suggests there may be an ascertainment bias for severely affected cases of 3q29 deletion syndrome,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32321479
DOI: 10.1186/s12888-020-02598-w
PMCID: PMC7179007

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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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