Format

Send to

Choose Destination
Am J Hum Genet. 1999 Aug;65(2):448-62.

Multiplex-FISH for pre- and postnatal diagnostic applications.

Author information

1
Institut für Anthropologie und Humangenetik, LMU München, D-80336 München, Germany.

Abstract

For >3 decades, Giemsa banding of metaphase chromosomes has been the standard karyotypic analysis for pre- and postnatal diagnostic applications. However, marker chromosomes or structural abnormalities are often encountered that cannot be deciphered by G-banding alone. Here we describe the use of multiplex-FISH (M-FISH), which allows the visualization of the 22 human autosomes and the 2 sex chromosomes, in 24 different colors. By M-FISH, the euchromatin in marker chromosomes could be readily identified. In cases of structural abnormalities, M-FISH identified translocations and insertions or demonstrated that the rearranged chromosome did not contain DNA material from another chromosome. In these cases, deleted or duplicated regions were discerned either by chromosome-specific multicolor bar codes or by comparative genomic hybridization. In addition, M-FISH was able to identify cryptic abnormalities in patients with a normal G-karyotype. In summary, M-FISH is a reliable tool for diagnostic applications, and results can be obtained in </=24 h. When M-FISH is combined with G-banding analysis, maximum cytogenetic information is provided.

PMID:
10417288
PMCID:
PMC1377944
DOI:
10.1086/302508
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center