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Open Access Case report

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

Laura Ciocca1*, Cecilia Surace1, Maria Cristina Digilio2, Maria Cristina Roberti1, Pietro Sirleto1, Antonietta Lombardo1, Serena Russo1, Valerio Brizi1, Simona Grotta1, Claudio Cini3 and Adriano Angioni1

Author affiliations

1 Cytogenetics and Molecular Genetics Unit, Children’s Hospital “Bambino Gesù”, IRCCS, Rome, Italy

2 Medical Genetics Unit, Children’s Hospital “Bambino Gesù”, IRCCS, Rome, Italy

3 Neurorehabilitation Unit, Children’s Hospital “Bambino Gesù”, IRCCS, Rome, Italy

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Citation and License

BMC Medical Genomics 2013, 6:3  doi:10.1186/1755-8794-6-3

Published: 11 February 2013

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.

Keywords:
Array-CGH; Heart defects; Ring chromosome 6