[Chromosome analysis in medicine].

Area of Science:

• Cytogenetics and molecular genetics
• Human genetics and developmental biology
• Cancer genomics

Context:

• Chromosomal abnormalities, including numerical and structural aberrations, are linked to a wide range of congenital disorders, developmental delays, and infertility.
• Cancer cells frequently exhibit significant karyotype alterations, often involving gene amplifications or deletions, leading to complex syndromes affecting multiple organs.
• Classical cytogenetic methods have limitations in diagnosing structural chromosomal aberrations, necessitating advanced techniques.

Purpose:

• To highlight the diagnostic limitations of classical cytogenetics for structural chromosomal aberrations.
• To emphasize the advantages and increasing application of Fluorescence in situ hybridisation (FISH) in detecting chromosomal abnormalities.
• To showcase the role of advanced FISH techniques and computational analysis in diagnosing developmental defects and cancers.

Summary:

• Aberrations in chromosome number and structure cause various developmental disorders and are hallmarks of cancer cells.
• Fluorescence in situ hybridisation (FISH) offers a sensitive, specific, and rapid method for detecting chromosomal abnormalities, including submicroscopic deletions and amplifications.
• Modern FISH techniques, coupled with computer-assisted analysis, are crucial for diagnosing congenital defects, understanding cancer aetiology, and improving patient prognosis.

Impact:

• Facilitates accurate diagnosis and prognosis of genetic disorders and cancers.
• Enables the detection of submicroscopic chromosomal changes previously undetectable.
• Advances the understanding of the genetic basis of developmental abnormalities and oncogenesis.