Mosaic trisomy r(14) associated with epilepsy and mental retardation.
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.
Tzoufi
Meropi
M
Department of Pediatrics, Medical School, University of Ioannina, 45500 Ioannina, Greece.
Kanioglou
Chrisanthi
C
Dasoula
Aggeliki
A
Asproudis
Ioannis
I
Tsatsoulis
Agathoklis
A
Sismani
Carolina
C
Patsalis
Philippos C
PC
Georgiou
Ioannis
I
Syrrou
Maria
M
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*