Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1

Rosamaria Silipigni, Edoardo Monfrini, Marco Baccarin, Sara Giangiobbe, Faustina Lalatta, Silvana Guerneri, Maria Francesca Bedeschi

Research output: Contribution to journalArticlepeer-review

Abstract

Rearrangements of the region 1q42.13q43 are rare, with only 7 cases reported to date. The imbalances described are usually the result of inherited translocations with other chromosomes. Moreover, few cases of both inter- and intrachromosomal deletions/duplications detected cytogenetically have been described. We report the molecular cytogenetic characterization of an inverted insertion involving the region 1q42.13q43 and segregating in 2 generations of a family. The deletion and the duplication of the same segment were detected in 2 affected family members. SNP array analysis showed the familial origin of the deletion/duplication due to the occurrence of a crossing-over during meiosis. Our report underlines the importance of determining the correct origin of chromosomal aberrations using different molecular cytogenetic tests in order to provide a good estimation of the reproductive risk for the members of the family.

Original languageEnglish
Pages (from-to)73-80
JournalCytogenetic and Genome Research
Volume153
DOIs
Publication statusPublished - 2017

Keywords

  • Array-CGH
  • Chromosome 1
  • Deletion/duplication
  • Intrachromosomal insertion

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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