Direct duplication 12p11.21-p13.31 mediated by segmental duplications: A new recurrent rearrangement?

Manuela De Gregori, Tiziano Pramparo, Luigi Memo, Giorgio Gimelli, Jole Messa, Mariano Rocchi, Maria Grazia Patricelli, Roberto Ciccone, Roberto Giorda, Orsetta Zuffardi

Research output: Contribution to journalArticlepeer-review

Abstract

We describe the characterization of an interstitial duplication of 12p, dup(12)(p11.21p13.31), by array-CGH and FISH in a patient with mental retardation and dysmorphic features. The sequence analysis of the breakpoints revealed the presence of homologous low copy repeats (LCRs) flanking the duplication region, thus suggesting that they have mediated the rearrangement. Pip-maker analysis showed that a third cluster of homologous LCRs lie distally to the two mediating the 12p duplication. We hypothesize that this duplication might be a new recurrent rearrangement and that, thanks to the different orientations of the homologous regions lying within each cluster, the three clusters are responsible for at least some of the several 12p aneuploidies reported in the literature such as direct and inverted duplications, deletions and supernumerary analphoid chromosomes. Moreover, we excluded that polymorphic inversions between these three clusters are present in the normal population.

Original languageEnglish
Pages (from-to)207-213
Number of pages7
JournalHuman Genetics
Volume118
Issue number2
DOIs
Publication statusPublished - Nov 2005

Keywords

  • 12p duplication
  • Low copy repeats
  • PipMaker analysis
  • Recurrent rearrangements
  • Segmental duplications

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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