A Case of Identification of Marker Chromosome by comparative genomic hybridization and fluorescence in situ hybridization.
- Author:
So Young SHIN
1
;
Young Mi JEON
;
Chun Hwa IHM
;
Moon Hee KIM
;
Sun Hoe KOO
;
Jong Woo PARK
;
Kye Chul KWON
;
Yun Mi PARK
Author Information
1. Department of Clinical Pathology, College of Medicine, Chungnam National University, Taejeon, Korea.
- Publication Type:Case Report
- Keywords:
Comparative genomic hybridization;
Marker chromosome;
Fluorescence in situ hybridization
- MeSH:
Child;
Chromosomes, Human, Pair 15;
Comparative Genomic Hybridization*;
Fluorescence*;
Genome;
Humans;
In Situ Hybridization*;
Intellectual Disability;
Karyotype;
Lymphocytes;
Metaphase;
Paint
- From:Korean Journal of Clinical Pathology
2001;21(4):310-313
- CountryRepublic of Korea
- Language:Korean
-
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.
