De novo interstitial deletion of chromosome 2 (p23p24).

Pediatr Neonatol

Division of Neonatology, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.

Published: February 2011

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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http://dx.doi.org/10.1016/j.pedneo.2010.12.001DOI Listing

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