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

PEN-HUA SUINN-CHI LEE2026-10-162026-10-162011-06-01Pure ID: 15414654Pure UUID: 0c170dad-8d0c-4b3f-98ed-b428301d400010.1016/j.pedneo.2011.03.009https://www.scopus.com/pages/publications/79959597989https://scholars.csmu.edu.tw/handle/123456789/33677Interstitial 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)].4enInterstitial deletions of the short arm of chromosome 4 in a patient with mental retardation and focal seizurejournal article