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Karyotyping

Karyotyping

Karyotyping

Karyotyping

Chromosome Structure

Chromosome Structure

Chromosome Structure

Chromosome Structure

A functional eukaryotic chromosome must contain three elements: a centromere, telomeres, and numerous origins of replication.
The centromere is a DNA sequence that links sister chromatids. This is also where kinetochores, protein complexes to which spindle microtubules attach, are constructed after the chromosome is replicated. The kinetochores allow the spindle microtubules to move the chromosomes within the cell during cell division.
Telomeres consist of non-coding repetitive nucleotide...

Polytene Chromosomes

Polytene Chromosomes

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...

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Related Experiment Video

Updated: Mar 28, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

Karyotype is not dead (yet)!

Laurent Pasquier¹, Mélanie Fradin¹, Elouan Chérot²

¹Service de Génétique Médicale, CHU Hôpital Sud, CLAD Ouest, Rennes, France.

European Journal of Medical Genetics

|December 23, 2015

Summary

Karyotype analysis, though traditional, remains a powerful tool for diagnosing Mendelian diseases when advanced genetic tests like exome sequencing fail. This method can identify chromosomal rearrangements crucial for accurate genetic counseling.

Keywords:

Balanced translocation Developmental abnormalities Gene disrupted Genetic counselling Karyotype

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Published on: February 6, 2012

Area of Science:

Genetics
Medical Diagnostics

Background:

Array-comparative genomic hybridization (a-CGH) and next-generation sequencing (NGS) are increasingly used for genetic testing, particularly for intellectual disability (ID).
These advanced techniques improve diagnostic rates but often miss qualitative genomic information, such as chromosomal rearrangements.
Karyotype analysis, a more traditional method, can detect chromosomal translocations and inversions that other methods may overlook.

Purpose of the Study:

To highlight the continued relevance of karyotype analysis in diagnosing genetic disorders.
To emphasize its utility when molecular genetic testing yields inconclusive results for suspected Mendelian diseases.

Main Methods:

Case studies illustrating the diagnostic value of karyotype.
Comparison of karyotype with a-CGH and exome sequencing capabilities.

Main Results:

Karyotype successfully diagnosed Mendelian diseases in cases where molecular analyses were unsuccessful.
Chromosomal rearrangements, undetectable by a-CGH or exome sequencing, were identified by karyotype.

Conclusions:

Karyotype remains a valuable, cost-effective, and globally accessible genetic testing method.
Clinicians should consider karyotype analysis for suspected Mendelian diseases, especially when molecular tests are negative, to identify causative chromosomal rearrangements.