title: Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.
abstract: Ring chromosome 7 is an unusual chromosome anomaly. Here we describe a patient with ring chromosome 7 and we show that both subtelomeres are still present. The diagnosis agrees with 'ring syndrome'. This report helps to further delineate the clinical manifestations of 'ring syndrome' and to distinguish the phenotypic consequences of the presence of a ring chromosome 7 from the phenotypic consequences of terminal chromosome 7 submicroscopic deletions.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium. Vermeesch@med.kuleuven.ac.be
authors.forename: J R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: E
authors.initials: E
authors.lastname: Baten
authors.forename: J-P
authors.initials: JP
authors.lastname: Fryns
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012303:Ring Chromosomes; D013577:Syndrome; D016615:Telomere