title: Ring chromosome 18 in a child with febrile seizures.
abstract: Ring chromosomes are uncommon cytogenetic findings but have meanwhile been reported for nearly all human chromosomes. Among the rare observations of ring chromosomes in man, the diagnosis of ring chromosome 18 represents a prominent group. We here describe on the cytogenetic analysis results obtained for a 9 years old male patient of non-consanguineous parents. He had growth and developmental delay, mental and motor retardation, microcephaly, microphtalmia, triangle face, small dysplastic ears, strabismus, epicanthal folds on the left, short stature, cryptorchidism, spasticity, pes equinovarus, pes planus, hypothroidism, stereotypic movements and febrile seizures. Also he had hypomyelinization and multiple hyperintense focuses within the white matter on the MRI. The generalized epileptiform abnormality originated from bilateral Centroparietal region. The metabolic investigations including blood and urine amino acids and lysosomal screening tests were normal. The chromosome analysis identified [46,XY,r(18)/46,XY] in 35% of cells a ring 18 and in 65% of cells normal karyotype in peripheral blood cells examined by standard G-bands by Trypsin using Giemsa (GTG) analysis. The dysmorphic features of the presented patient are discussed to the identification of the genotype-phenotype correlation related to his karyotype.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey. gencelep@yahoo.com
authors.forename: F
authors.initials: F
authors.lastname: Celep
authors.forename: F M
authors.initials: FM
authors.lastname: Sonmez
authors.forename: S
authors.initials: S
authors.lastname: Kul
authors.forename: F
authors.initials: F
authors.lastname: Ucar
authors.forename: A
authors.initials: A
authors.lastname: Karaguzel
mesh_terms: D001921:Brain / Q000473:pathology*; D002648:Child; D002887:Chromosomes, Human, Pair 18; D056726:Genetic Association Studies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D012303:Ring Chromosomes; D003294:Seizures, Febrile / Q000235:genetics*