De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH

Am J Med Genet. 2001 Apr 15;100(1):56-61. doi: 10.1002/1096-8628(20010415)100:1<56::aid-ajmg1207>;2-s.


We report on a 2-year-old boy presenting with growth and psychomotor retardation and facial anomalies, including a flat face with prominent forehead, a flat nasal bridge and flat occiput, unusually long curved eyelashes, and a thin upper lip with down-turned corners of the mouth. Analysis of GTG-banded chromosomes demonstrated that the patient had extra chromosomal material in the long arm of one chromosome 5. This chromosome aberration was characterized further using microdissection and FISH with band-specific probes and a de novo direct duplication (5)(q31.3q33.3) was shown to be present. We have compared this case with others known to be partially trisomic for chromosome 5q reported in the literature.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 5 / genetics*
  • Face / abnormalities
  • Female
  • Gene Duplication
  • Growth Disorders
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Male
  • Psychomotor Disorders