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

L. Zelante, S. Calvano, B. Dallapiccola, R. Mingarelli, R. Antonacci, L. Chiovato, M. Rocchi

Research output: Contribution to journal › Article › peer-review

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.

Original languageEnglish
Pages (from-to)368-371
Number of pages4
JournalClinical Genetics
Volume46
Issue number5
Publication statusPublished - 1994

Keywords

  • Chromosome 12p duplication
  • Chromosome painting
  • Fluorescence in situ hybridization
  • Subchromosomal painting

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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