chromosomique

Chromosomique is an adjective used in biology and medicine to describe anything related to chromosomes, the cellular structures that organize genetic material. In practice, it encompasses chromosome number, structure, behavior during cell division, and chromosomal abnormalities.

In humans and other organisms, chromosomal studies include determining the karyotype, identifying euploidy or aneuploidy, and detecting structural rearrangements such as translocations, deletions, duplications, inversions, or ring chromosomes. The term is commonly used in French-language literature; in English the equivalent is chromosomal.

Methods used in chromosomique research and diagnostics include cytogenetics, which employs microscopy to visualize chromosomes during metaphase, standard karyotyping, and techniques such as fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (array-CGH) or chromosomal microarrays. More recent approaches involve whole-genome sequencing and bioinformatic analyses that pinpoint chromosomal rearrangements.

Applications of chromosomique concepts span prenatal testing (such as amniocentesis and chorionic villus sampling), the diagnosis of congenital disorders, infertility workups, and cancer genomics where chromosomal rearrangements influence oncogenesis (for example, characteristic translocations). Chromosomal analysis also informs evolutionary biology through comparative chromosome studies.

See also: cytogenetics, karyotype, chromosomal abnormality, aneuploidy.