Karyotype

A karyotype is the number and visual appearance of chromosomes in a cell or organism, typically assessed by arranging chromosomes into matched pairs.

Karyotyping: A laboratory procedure that images and arranges chromosomes to examine their number and structure. This procedure produces the arranged chromosome display called a karyotype.
Chromosome: A DNA-protein structure that carries genetic information in a cell. Chromosomes are the units counted and visually compared in a karyotype.
Down syndrome: A genetic condition usually caused by an additional copy of chromosome 21. A karyotype can reveal the extra chromosome in many cases.
Chromosomal microarray: A genome-wide test that detects many DNA copy-number gains and losses using probe arrays. It often detects smaller copy-number changes than a standard karyotype.
Mosaicism: The presence of genetically distinct cell populations within one organism. A single sampled cell line may not represent all chromosome complements in the body.
Metaphase: The stage of cell division when condensed chromosomes align before separating. Karyotyping commonly examines chromosomes when they are condensed at this stage.
Homologous chromosomes: A pair of chromosomes with corresponding genes, one typically inherited from each parent. Their matching structure is the basis for arranging chromosomes in pairs.
Turner syndrome: A condition in which a person has complete or partial absence of one X chromosome. The chromosome complement can show monosomy X or related patterns.
DNA sequencing: The determination of the order of nucleotide bases in DNA. It can reveal sequence variants invisible in a chromosome-level view.
Chromosomal mosaicism: The presence of cell populations with different chromosome numbers or structures in one individual. Its detection depends on how many cells are examined and which tissue is sampled.

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