Korean J Clin Pathol.  2001 Aug;21(4):310-313.

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

• Shin SY
• Jeon YM
• Ihm CH
• Kim MH
• Koo SH
• Park JW
• Kwon KC
• Park YM

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.

Keyword

Comparative genomic hybridization; Marker chromosome; Fluorescence in situ hybridization

MeSH Terms

Child
Chromosomes, Human, Pair 15
Comparative Genomic Hybridization*
Fluorescence*
Genome
Humans
In Situ Hybridization*
Intellectual Disability
Karyotype
Lymphocytes
Metaphase
Paint