頁籤選單縮合
題 名 | De Novo Interstitial Deletion of Chromosome 2 (p23p24) |
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作 者 | Su, Pen-hua; Chen, Jia-yuh; Tsao, Teng-fu; Chen, Suh-jen; | 書刊名 | Pediatrics and Neonatology |
卷 期 | 52:1 2011.02[民100.02] |
頁 次 | 頁46-50 |
分類號 | 417.5687 |
關鍵詞 | Array CGH; 2p deletion; Radioulnar synostosis; |
語 文 | 英文(English) |
英文摘要 | 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. |
本系統中英文摘要資訊取自各篇刊載內容。