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Updated: Jun 3, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
De novo interstitial deletion of chromosome 2 (p23p24)
Pen-Hua Su1, Jia-Yuh Chen, Teng-Fu Tsao
1Division of Neonatology, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Abstract:
Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2-2p25.1 and three cases of 2p23.3-2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative genome hybridization. We present a clinical and cytogenetic report of a patient with psychomotor retardation, hearing impairment, and limb abnormalities. The obvious osseous fusion with bone marrow and cortex continuation between proximal parts of radius and ulna-congenital radioulnar synostosis-were first visualized by multidetector-row computed tomography scan.
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