Two patients with ring chromosome 15 syndrome

Am J Med Genet. 1988 Jan;29(1):149-54. doi: 10.1002/ajmg.1320290119.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 15*
  • Female
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Microcephaly / genetics
  • Ring Chromosomes*
  • Speech Disorders / genetics
  • Syndrome