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Article

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.

American journal of medical genetics. Part A - 1 Jul 2023

Pelgrims Elise, Lynch Sally Ann, Hannes Laurens, Hoffer Mariëtte J V, Melotte Cindy, Van Haeringen Arie, Swillen Ann, Breckpot Jeroen

Abstract excerpt

Triplication of chromosomal region 1p36.3 is a rare genomic rearrangement. In this report, we delineate the phenotypic spectrum associated with 1p36.3 triplications. We describe four patients with microtriplications of variable size, but with a strong phenotypic overlap, and compare them to previously described patients with an isolated triplication or duplication of this region. The 1p36.3 triplication syndrome...

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PMID: 37129290
DOI: 10.1002/ajmg.a.63222

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