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Case Reports
. 2011 Jun;52(3):165-8.
doi: 10.1016/j.pedneo.2011.03.009. Epub 2011 Apr 12.

Interstitial deletions of the short arm of chromosome 4 in a patient with mental retardation and focal seizure

Pen-Hua Su  1 , Inn-Chi Lee, Jia-Yuh Chen, Suh-Jen Chen, Ju-Shan Yu, Teng-Fu Tsao
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Free article
Case Reports

Interstitial deletions of the short arm of chromosome 4 in a patient with mental retardation and focal seizure

Pen-Hua Su et al. Pediatr Neonatol. 2011 Jun.
Free article

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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