Objective: To identify the origin of the marker chromosome in a patient with chromosome aberration, and to provide the precise genetic diagnosis.
Methods: Comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) were performed to detect the known small marker chromosome in this patient.
Results: The small marker chromosome originated from chromosome 13 pter->q12.
Conclusion: CGH and FISH can be used to detect the small marker chromosome, which is convenient and quick in detecting the origin of small marker chromosome.