title: Mosaic trisomy r(14) associated with epilepsy and mental retardation.
abstract: We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.
authors: Department of Pediatrics, Medical School, University of Ioannina, 45500 Ioannina, Greece.
authors: Meropi
authors: M
authors: Tzoufi
authors: Chrisanthi
authors: C
authors: Kanioglou
authors: Aggeliki
authors: A
authors: Dasoula
authors: Ioannis
authors: I
authors: Asproudis
authors: Agathoklis
authors: A
authors: Tsatsoulis
authors: Carolina
authors: C
authors: Sismani
authors: Philippos C
authors: PC
authors: Patsalis
authors: Ioannis
authors: I
authors: Georgiou
authors: Maria
authors: M
authors: Syrrou
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D012303:Ring Chromosomes; D014314:Trisomy / Q000235:genetics*