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Karyotyping

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Polytene Chromosomes

Polytene Chromosomes

Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also regularly...

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Related Experiment Video

Updated: May 27, 2026

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

Published on: February 6, 2012

Characterizing small supernumerary marker chromosomes with combination of multiple techniques.

S Yu¹, S D Fiedler, S J Brawner

¹Department of Pathology, Children's Mercy Hospitals and Clinics, Kansas City, MO 64108, USA. syu1@cmh.edu

Cytogenetic and Genome Research

|November 30, 2011

Summary

Comprehensive characterization of constitutional small supernumerary marker chromosomes (sSMCs) requires combining multiple techniques. Genome-wide chromosomal microarray (CMA) and fluorescence in situ hybridization (FISH) are crucial for precise analysis.

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Published on: January 11, 2017

Area of Science:

Genetics
Molecular Biology
Cytogenetics

Background:

Small supernumerary marker chromosomes (sSMCs) are challenging to characterize.
Accurate identification of sSMC structure and origin is vital for genetic counseling and understanding associated phenotypes.

Observation:

Fourteen cases of constitutional sSMCs were analyzed using chromosomal microarray (CMA), G banding, fluorescence in situ hybridization (FISH), and quantitative real-time PCR (qPCR).
sSMCs varied in complexity, including simple, complex, and inverted duplication types.
CMA identified genetic content and breakpoints in most cases but missed two sSMCs lacking detectable euchromatin.

Findings:

FISH was essential for determining the physical location, structure, formation mechanism, mosaicism, and origin of all sSMCs.
CMA revealed additional unexpected genomic abnormalities in two cases.
A combination of techniques provided a comprehensive characterization of sSMCs.

Implications:

The study highlights the limitations of individual techniques for sSMC analysis.
Integrating CMA, FISH, and other methods is necessary for accurate sSMC diagnosis and research.
Comprehensive sSMC characterization aids in understanding their role in genetic disorders.