Skip to content

Karyotype

Definition
AI-generated

A karyotype is the visual or systematic description of an individual’s chromosomes—number, size, banding pattern, and large structural rearrangements—usually from metaphase spreads or genome-wide copy-number inference.

Topics
Core genetics
Related
Autosome Centromere Chromosome

Why it matters in GWAS

Large cytogenetic abnormalities are typically excluded or analyzed separately in SNP GWAS; CNV and aneuploidy calls from arrays or sequencing intersect conceptually with karyotype-level pathology.

Example usage

"Array-based CNV calling flagged a duplication consistent with an abnormal karyotype referred for cytogenetics."

Autosome Centromere Chromosome Structural Variant Translocation
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • McGowan-Jordan J, et al. (2020). ISCN 2020: An International System for Human Cytogenomic Nomenclature. Karger.
← Karyogamy Kendall rank correlation coefficient →

Last updated (UTC · Git history)