Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids

Clin Genet. 1994 Nov;46(5):368-71. doi: 10.1111/j.1399-0004.1994.tb04181.x.

Abstract

Several patients with partial 12p duplications are known. An additional patient, who presented with the clinical manifestations of trisomy 12p syndrome, is described. De novo duplication 12p13.1-->pter was diagnosed using subchromosomal painting libraries obtained from somatic cell hybrids.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Chromosome Banding
  • Chromosomes, Human, Pair 12* / genetics
  • Female
  • Humans
  • Hybrid Cells
  • Trisomy* / genetics