Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations

Mariasavina Severino, Andrea Accogli, Giorgio Gimelli, Andrea Rossi, Svetlana Kotzeva, Maja Di Rocco, Patrizia Ronchetto, Cristina Cuoco, Elisa Tassano

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Ring chromosome 2 is a rare constitutional abnormality that generally occurs de novo. About 14 cases have been described to date, but the vast majority of papers report exclusively conventional cytogenetic investigations and only two have been characterized by array-CGH. Results: Here we describe the clinical, neuroradiological, and molecular features of a 5-year-old boy harbouring a ring chromosome 2 presenting with severe growth failure, facial and bone dysmorphisms, microcephaly, and renal malformation. Brain MR with diffusion tensor imaging revealed simplified cortical gyration, pontine hypoplasia, and abnormally thick posterior corpus callosum, suggesting an underlying axonal guidance defect. Cytogenetic investigations showed a karyotype with a ring chromosome 2 and FISH analysis with subtelomeric probes revealed the absence of signals on both arms. These results were confirmed by array-CGH showing terminal deletions on 2p25.3 (~439 kb) and 2q37.3 (~3.4 Mb). Conclusions: Our report describes a new patient with a ring chromosome 2 completely characterised by array-CGH providing additional information useful not only to study genotype-phenotype correlation but also to validate the role of already reported candidate genes and to suggest novel ones which could improve our understanding of the clinical features associated with ring chromosome 2.

Original languageEnglish
Article number17
JournalMolecular Cytogenetics
Volume8
Issue number1
DOIs
Publication statusPublished - 2015

Keywords

  • 2p25.3 deletion
  • 2q37.3 deletion
  • Array-CGH
  • Brain MRI
  • Diffusion tensor imaging
  • Ring chromosome 2

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Biochemistry
  • Molecular Medicine
  • Biochemistry, medical

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