title: Ring chromosome 17: phenotype variation by deletion size.
abstract: Ring chromosome 17 is a rare cytogenetic abnormality, with 12 previous reports in the literature. Some have a relatively mild phenotype characterized by seizures, mental retardation, skin changes and short stature. Other patients have Miller-Dieker syndrome (MDS), which includes lissencephaly, multiple dysmorphic features, severe mental retardation and shortened life expectancy. We describe two new cases of ring chromosome 17 and review the literature. Our cases and the other reports of patients without a deletion encompassing the Miller-Dieker region, delineate a fairly distinctive subgroup of individuals with ring 17, whose phenotype consists of growth and mental retardation, seizures, minor dysmorphic features, café-au-lait spots and retinal flecks. This classification of ring 17 into two distinct groups based on the size of the deletion and the phenotypic manifestations should facilitate clinical suspicion of this rare chromosomal abnormality.
authors.affiliation: Department of Pediatrics/Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA. vshashi@wfubmc.edu
authors.forename: V
authors.initials: V
authors.lastname: Shashi
authors.forename: J R
authors.initials: JR
authors.lastname: White
authors.forename: M J
authors.initials: MJ
authors.lastname: Pettenati
authors.forename: S K
authors.initials: SK
authors.lastname: Root
authors.forename: W L
authors.initials: WL
authors.lastname: Bell
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D012303:Ring Chromosomes; D013577:Syndrome