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Article

New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.

American journal of medical genetics. Part A - 1 May 2020

Pollak Rebecca M, Zinsmeister Michael C, Murphy Melissa M, Zwick Michael E, Mulle Jennifer G

Abstract excerpt

3q29 duplication syndrome (3q29dup) is a rare genomic disorder caused by a 1.6 Mb duplication (GRCh38 chr3:195,998,000-197,623,000). Case reports indicate the 3q29dup is likely to be pathogenic, but the full range of manifestations is not well understood. We used the 3q29 registry (https://3q29.com) to ascertain 31 individuals with 3q29dup, the largest cohort ever surveyed in a systematic way. For comparison, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32154651
DOI: 10.1002/ajmg.a.61540
PMCID: PMC7785085

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