| Literature DB >> 21385658 |
Pen-Hua Su1, Jia-Yuh Chen, Teng-Fu Tsao, Suh-Jen Chen.
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.Entities:
Mesh:
Year: 2011 PMID: 21385658 DOI: 10.1016/j.pedneo.2010.12.001
Source DB: PubMed Journal: Pediatr Neonatol ISSN: 1875-9572 Impact factor: 2.083