A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1)

Clin Dysmorphol. 1999 Jul;8(3):211-4.


We report on a 4-year-old child with psychomotor retardation, general hypotonia and only mild dysmorphic features. Her chromosome constitution was 46,XX, t (6;9) (q27;q22.1), dup (9) (q21.2q22.1). This de novo interstitial duplication was confirmed using fluorescence in situ hybridisation (FISH) with band-specific probes. This is the second report of a patient with an interstitial duplication of this region of the long arm of chromosome 9. It is concluded that in a child with an abnormal phenotype and a de novo (apparently) balanced translocation, the possibility of a small duplication or deletion should be considered.

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 6*
  • Chromosomes, Human, Pair 9*
  • Face / abnormalities*
  • Female
  • Gene Duplication*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Psychomotor Disorders / genetics*
  • Translocation, Genetic*