title: Two patients with ring chromosome 15 syndrome.
abstract: We report on 2 patients (3 1/2 year-old-male and 6-year-old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café-au-lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and paternal age at the time of birth was 28 and 31 years, respectively.
authors.affiliation: Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232.
authors.forename: M G
authors.initials: MG
authors.lastname: Butler
authors.forename: A B
authors.initials: AB
authors.lastname: Fogo
authors.forename: D A
authors.initials: DA
authors.lastname: Fuchs
authors.forename: F S
authors.initials: FS
authors.lastname: Collins
authors.forename: V G
authors.initials: VG
authors.lastname: Dev
authors.forename: J A
authors.initials: JA
authors.lastname: Phillips
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D012303:Ring Chromosomes; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome