Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4175124 | Pediatrics & Neonatology | 2011 | 4 Pages |
Abstract
Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We describe a girl diagnosed with moderate mental retardation and seizures with an interstitial deletion of the short arm of chromosome 4 [46, XX, del(4)(p12p15.2)].
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Authors
Pen-Hua Su, Inn-Chi Lee, Jia-Yuh Chen, Suh-Jen Chen, Ju-Shan Yu, Teng-Fu Tsao,