Details

Autor(en) / Beteiligte

• Daniely, M
• Barkai, G
• Goldman, B
• Aviram-Goldring, A

Titel

Structural unbalanced chromosome rearrangements resolved by comparative genomic hybridization

Ist Teil von

• Cytogenetic and genome research, 1999, Vol.86 (1), p.51-55

Ort / Verlag

Switzerland

Erscheinungsjahr

1999

Quelle

MEDLINE

Beschreibungen/Notizen

• The identification of unbalanced structural chromosome rearrangements using conventional cytogenetic techniques depends on recognition of the unknown material from its banding pattern. Even with optimally banded chromosomes, when large chromosome segments are involved, cytogeneticists may not always be able to determine the origin of extrachromosomal material and supernumerary chromosomes. We report here on the application of comparative genomic hybridization (CGH), a new molecular-cytogenetic assay capable of detecting chromosomal gains and losses, to six clinical samples suspected of harboring unbalanced structural chromosome abnormalities. CGH provided essential information on the nature of the unbalanced aberration investigated in five of the six samples. This approach has proved its ability to resolve complex karyotypes and to provide information when metaphase chromosomes are not available. In cases where metaphase chromosome spreads were available, confirmation of CGH results was easily obtained by fluorescence in situ hybridization (FISH) using specific probes. Thus the combined use of CGH and FISH provided an efficient method for resolving the origin of aberrant chromosomal material unidentified by conventional cytogenetic analysis.