title: Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.
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.
  
  
  METHODS
  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.
authors: Cytogenetics and Molecular Genetics Unit, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy.
authors: Laura
authors: L
authors: Ciocca
authors: Cecilia
authors: C
authors: Surace
authors: Maria Cristina
authors: MC
authors: Digilio
authors: Maria Cristina
authors: MC
authors: Roberti
authors: Pietro
authors: P
authors: Sirleto
authors: Antonietta
authors: A
authors: Lombardo
authors: Serena
authors: S
authors: Russo
authors: Valerio
authors: V
authors: Brizi
authors: Simona
authors: S
authors: Grotta
authors: Claudio
authors: C
authors: Cini
authors: Adriano
authors: A
authors: Angioni
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D025063:Chromosome Disorders; D002896:Chromosomes, Human, Pair 6; D055028:Comparative Genomic Hybridization; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007223:Infant; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D012303:Ring Chromosomes
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