title: Molecular and clinical characterization of patients with a ring chromosome 11.
abstract: Ring chromosomes are uncommon cytogenetic findings and are often associated with clinical features overlapping the phenotype of patients with terminal deletions of the corresponding chromosome. Most of the ring chromosomes arise sporadically and parental transmission is rarely observed. We report five patients carrying a ring chromosome 11, with three of the patients belonging to the same family. SNP array analysis was performed to characterize the different ring chromosomes and the clinical phenotypes were compared with previously reported patients with ring chromosome 11.
authors.affiliation: Dept. of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. K.B.M.Hansson@LUMC.nl
authors.forename: Kerstin B M
authors.initials: KB
authors.lastname: Hansson
authors.forename: Antoinet C J
authors.initials: AC
authors.lastname: Gijsbers
authors.forename: Wilma
authors.initials: W
authors.lastname: Oostdijk
authors.forename: Jan J B
authors.initials: JJ
authors.lastname: Rehbock
authors.forename: Femke
authors.initials: F
authors.lastname: de Snoo
authors.forename: Claudia A L
authors.initials: CA
authors.lastname: Ruivenkamp
authors.forename: Sarina G
authors.initials: SG
authors.lastname: Kant
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012303:Ring Chromosomes; D055815:Young Adult