A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22

Ann Genet. 1989;32(1):55-8.

Abstract

We report on a case of "de novo" interstitial duplication of bands 2p21-22 in a 31-month-old female with mild mental retardation and dysmorphism. Cytogenetic investigations were performed on peripheral blood by adding 5-BrdU and 5-FdU. Measurements of enzymatic activity of malate dehydrogenase, whose gene has been mapped on the band 2p23, added reliability to the identification of bands 2p21-22 as the duplicated segment. The authors suggest that the duplication of this segment is able to cause the clinical picture of the syndrome of partial 2p trisomy.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Banding
  • Chromosomes, Human, Pair 2*
  • Ear / abnormalities
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Trisomy*