Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation

Am J Med Genet. 2002 Apr 22;109(2):149-53. doi: 10.1002/ajmg.10287.


We report a 40-year-old female with mild mental retardation and behavior problems and her 6-year-old daughter. Chromosome analysis showed that both patients had a proximal duplication in the short arm of chromosome 16. The aberration was characterized further with band-specific probes, resulting in a 46,XX,dir dup(16)(pter --> p11.2::p12.1 --> qter) karyotype. The clinical and cytogenetical findings are compared to other patients with partial trisomy 16p reported in the literature.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Child
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 16 / genetics*
  • Family Health
  • Female
  • Gene Duplication
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology*
  • Karyotyping
  • Trisomy