Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Multiplex-FISH for pre- and postnatal diagnostic applications.

S Uhrig1, S Schuffenhauer, C Fauth

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

American Journal of Human Genetics
|July 27, 1999
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

British journal of cancer·2015
Same author

Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas.

Clinical neurology and neurosurgery·2014
Same author

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

Clinical genetics·2013
Same author

[Pandemic 2009/10: reflections on the utility of the vaccination actions in Hesse].

Gesundheitswesen (Bundesverband der Arzte des Offentlichen Gesundheitsdienstes (Germany))·2013
Same author

[Acoustic study of sustained vowels made by patients with recurrent nerve paralysis after thyroidectomy].

Revue de laryngologie - otologie - rhinologie·2012
Same author

Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.

Cytogenetic and genome research·2012
Same journal

Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans.

American journal of human genetics·2026
Same journal

Genome-wide association study and predictors of neonatal blood cell traits in Hispanic newborns.

American journal of human genetics·2026
Same journal

Comparison of methods for assessing effects of risk factors on disease progression in Mendelian randomization under index event bias.

American journal of human genetics·2026
Same journal

Deciding "what" to screen for and "when": The importance of natural history information.

American journal of human genetics·2026
Same journal

Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity.

American journal of human genetics·2026
Same journal

Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.

American journal of human genetics·2026
See all related articles

Multiplex-FISH (M-FISH) offers advanced chromosomal analysis, identifying abnormalities missed by standard G-banding. This multicolor technique provides comprehensive cytogenetic information for diagnostics within 24 hours.

Area of Science:

  • Cytogenetics
  • Molecular Biology
  • Genetics

Background:

  • Giemsa banding (G-banding) has been the standard for chromosomal analysis for over 30 years.
  • G-banding alone often fails to fully characterize marker chromosomes and structural abnormalities.

Purpose of the Study:

  • To introduce and evaluate multiplex-FISH (M-FISH) as a superior diagnostic tool for chromosomal analysis.
  • To demonstrate M-FISH's ability to identify cryptic and complex chromosomal abnormalities.

Main Methods:

  • Multiplex-FISH (M-FISH) utilizes 24 distinct colors to visualize all 22 autosomes and 2 sex chromosomes.
  • M-FISH identifies euchromatin in marker chromosomes and characterizes translocations and insertions.
  • Comparative genomic hybridization and chromosome-specific multicolor bar codes were used to discern deleted or duplicated regions.

Related Experiment Videos

Main Results:

  • M-FISH successfully identified marker chromosomes and structural abnormalities that were not decipherable by G-banding.
  • The technique revealed cryptic abnormalities in patients with a normal G-karyotype.
  • M-FISH provided rapid diagnostic results, obtainable within 24 hours.

Conclusions:

  • M-FISH is a reliable and powerful tool for pre- and postnatal diagnostic applications.
  • Combining M-FISH with G-banding provides maximum cytogenetic information.
  • M-FISH enhances the detection of complex chromosomal rearrangements.