karyotype
C2Pronunciation
UK
- /ˈkarɪə(ʊ)taɪp/
US
- /kˈærɪˌɑːtaɪp/
Description
- Chromosome map
- chromosomal profile
- visual organization of chromosomes
Imagine your chromosomes lined up like books on a shelf - that is essentially what a karyotype is. It is a picture of a person's chromosomes, arranged in order to show their size, shape, and pairing. Doctors and scientists use it to find chromosome changes that can affect health or development. You can think of it as a chromosome portrait that shows whether the number and structure look typical.
It is not just used to diagnose conditions. It is also used in prenatal testing to check a developing baby's chromosomes, and in cancer studies to see how chromosome changes may be linked to tumor growth. If you hear about someone having chromosome testing, this kind of picture may be part of it.
A karyotype is a visual representation of an organism's chromosomes - essentially a snapshot of its chromosome set, organized and displayed in a standard format. The word comes from the Greek karyon (kernel or nucleus) and typos (type). It is a bit like creating a family photo album for your chromosomes.
Scientists carefully collect cells, often from blood, bone marrow, amniotic fluid, or chorionic villus sampling. They grow the cells in culture and then stop cell division during metaphase, the stage where chromosomes are most condensed and easiest to see. The chromosomes are then stained, photographed under a microscope, and arranged in pairs according to size, banding pattern, and centromere position.
The resulting karyotype shows how many chromosomes an individual has - humans usually have 46, arranged in 23 pairs - and whether there are structural changes such as missing, extra, or rearranged pieces. Karyotyping is an important tool for diagnosing genetic conditions such as Down syndrome (trisomy 21), Turner syndrome (monosomy X), and some types of leukemia. It can also reveal sex chromosome abnormalities.
While modern genetic testing methods like genome sequencing are becoming more common, karyotyping remains an important first step in many diagnostic investigations because it gives a quick overview of the whole chromosome picture. It is a practical way to visualize these basic structures and understand how changes in them can affect health and development.
Examples
- 1
Prenatal testing
The doctor ordered a karyotype after the ultrasound showed possible signs of a chromosome problem.
- 2
Medical diagnosis
Her karyotype was normal, so the team looked for other causes of the symptoms.
- 3
Cancer treatment
In some cancers, changes in the tumor's karyotype can help doctors choose a treatment plan.
Forms and spellings
1 form open this card.
Main spelling
- karyotypenoun