title: Interstitial deletions of the short arm of chromosome 4 in a patient with mental retardation and focal seizure.
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)].
authors.affiliation: Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: Pen-Hua
authors.initials: PH
authors.lastname: Su
authors.forename: Inn-Chi
authors.initials: IC
authors.lastname: Lee
authors.forename: Jia-Yuh
authors.initials: JY
authors.lastname: Chen
authors.forename: Suh-Jen
authors.initials: SJ
authors.lastname: Chen
authors.forename: Ju-Shan
authors.initials: JS
authors.lastname: Yu
authors.forename: Teng-Fu
authors.initials: TF
authors.lastname: Tsao
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D003337:Corpus Callosum / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D010902:Pituitary Gland / Q000473:pathology; D012640:Seizures / Q000235:genetics*