A Case of Identification of Marker Chromosome by comparative genomic hybridization and fluorescence in situ hybridization / 대한임상병리학회지

ABSTRACT

Comparative genomic hybridization (CGH) has been used to identify deletions and amplifications, particularly in neoplastic samples. CGH provides a new possibility searching genomes for imbalances of genetic material. We described the combined use of CGH and fluorescence in situ hybridization (FISH) to identify the origin of a marker chromosome in a child with mental retardation. Giemsa banding of metaphases from cultured lymphocytes showed a marker chromosome. The Karyotype was 47,XX,+mar. CGH revealed that the additional material originated from 15q. FISH confirmed this finding with whole chromosome paint for chromosome 15 and with a D15S10 (15q11-13) probe. This case demonstrates the efficient use of CGH and confirmatory FISH for the identification of chromosomal material of unknown origin.