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Article

Clinical characterization of familial 1p36.3 microduplication.

Neurogenetics - 1 Jul 2023

Jiao Junping, Wang Yuping, Hou Yue, Gao Chao, Shi Huimin, Tian Shujuan

Abstract excerpt

Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36.3 microduplications have rarely been reported. We report the two siblings of familial 1p36.3 microduplication, presenting with a severe global developmental delay, epilepsy, and a few dysmorphic features. They were referred to moderate-to-severe developmental delay (DD) and intellectual disability (ID). Both were considered eyelid...

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Identifiers

PMID: 37289317
DOI: 10.1007/s10048-023-00722-y
PMCID: PMC10319691

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