Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

Laura Ciocca, Cecilia Surace, Maria Cristina Digilio, Maria Cristina Roberti, Pietro Sirleto, Antonietta Lombardo, Serena Russo, Valerio Brizi, Simona Grotta, Claudio Cini, Adriano Angioni

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Ring chromosome 6 is a rare constitutional abnormality that generally occurs de novo. The related phenotype may be highly variable ranging from an almost normal phenotype to severe malformations and mental retardation. These features are mainly present when genetic material at the end of the chromosome is lost. The severity of the phenotype seems to be related to the size of the deletion. About 25 cases have been described to date, but the vast majority reports only conventional cytogenetic investigations. Case presentation. Here we present an accurate cyto-molecular characterization of a ring chromosome 6 in a 16-months-old Caucasian girl with mild motor developmental delay, cardiac defect, and facial anomalies. The cytogenetic investigations showed a karyotype 46,XX,r(6)(p25q27) and FISH analysis revealed the absence of the signals on both arms of the chromosome 6. These results were confirmed by means of array-CGH showing terminal deletions on 6p25.3 (1.3 Mb) and 6q26.27 (6.7 Mb). Our data were compared to current literature. Conclusions: Our report describes the case of a patient with a ring chromosome 6 abnormality completely characterized by array CGH which provided additional information for genotype-phenotype studies.

Original languageEnglish
Article number3
JournalBMC Medical Genomics
Volume6
Issue number1
DOIs
Publication statusPublished - 2013

Keywords

  • Array-CGH
  • Heart defects
  • Ring chromosome 6

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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