Objective: To assess the value of spectral karyotyping (SKY) combined with microarray-based comparative genomic hybridization (array-CGH) for the diagnosis of complex ring chromosome aberration.
Methods: For an 8-year-old boy featuring growth retardation, G-banding analysis has indicated a 46,XY,r(15)? karyotype, which was delineated by SKY in combination with array-CGH.
Results: The ring chromosome has originated from chromosome 15 according to SKY analysis. Position of the breakpoint (15q26.3) and a 594 kb deletion were revealed by array-CGH.
Conclusion: Molecular cytogenetic technologies are efficient tools for clarifying complex chromosomal abnormality, which has provided a powerful tool for conventional cytogenetic analysis.
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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2012.05.013 | DOI Listing |
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