A de novo 6q11-q15 duplication investigated by chromosome painting

Clin Genet. 1994 Nov;46(5):377-9. doi: 10.1111/j.1399-0004.1994.tb04183.x.


A de novo interstitial duplication of the 6q11-q15 chromosome region, confirmed by the application of a chromosome 6 painting probe, was observed in a patient with craniofacial dysmorphism, psychomotor retardation, cryptorchidism and hypospadias. Despite the publication of several cases showing partial trisomy 6q, to our knowledge the duplication of the proximal region q11-q15 has not previously been reported.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Aberrations* / genetics
  • Chromosome Banding
  • Chromosomes, Human, Pair 6* / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Trisomy