Absence of predictable phenotypic expression in proximal 15q duplications

Clin Genet. 1991 Sep;40(3):194-201. doi: 10.1111/j.1399-0004.1991.tb03076.x.


We describe ten individuals with an insertional duplication 15q12----q13. Phenotypic analysis of these individuals and 15 previously reported cases of proximal 15q duplications fails to show any consistent clinical manifestations. It appears that a duplication of this region is phenotypically silent.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 15*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Middle Aged
  • Multigene Family / genetics*
  • Mutagenesis, Insertional / genetics*
  • Phenotype
  • Prader-Willi Syndrome / genetics