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Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12

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Author

Summary, in English

Supernumerary ring chromosomes (SRC) account for approximately 10% of prenatal marker chromosomes and 60% of these SRCs are associated with an abnormal phenotype of the patient carrying them. SRCs have, with few exceptions, not been characterized at the molecular genetic level. Here, we present the first case of a SRC 12 thoroughly investigated with tiling resolution array-based comparative genomic hybridization (array CGH); multicolor, centromere, subtelomeric and whole chromosome painting fluorescence in situ hybridization. In addition, to be able to correlate phenotypic manifestations with a possible pathogenetic outcome of the SRC 12, we retrospectively compared and reviewed all 14 cases of SRC 12 reported, including our present case. Our analyses revealed that the SRC comprised 25.53-46.40 Mb of chromosome 12, a region known to harbor 47 annotated genes of which nine were of putative pathogenetic relevance. Reviewing the previously described cases of SRC 12, we could not establish any specific recurrent features associated with this type of SRC. This most probably reflects heterogeneity in break-point distribution among the reported cases, resulting in differently sized ring chromosomes and hence varying phenotypic traits of the patients. Detailed genomic evaluation, by array CGH or similar techniques may thus be of importance to predict the clinical course in individual cases.

Publishing year

2008

Language

English

Pages

44-49

Publication/Series

Clinical Genetics

Volume

73

Issue

1

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Medical Genetics

Keywords

  • FISH
  • genotype-phenotype correlation
  • ring chromosome 12
  • array CGH

Status

Published

ISBN/ISSN/Other

  • ISSN: 0009-9163