karyotype
Pronunciation: CARE-ee-oh-type
A visual representation of an individual's complete set of chromosomes, arranged by size and structure, used to identify chromosomal abnormalities.
Full Definition
A karyotype is a laboratory-produced image showing the complete chromosome complement of an individual, typically arranged in pairs from largest to smallest. The standard human karyotype contains 46 chromosomes (23 pairs), with abnormalities indicating conditions such as Down syndrome (trisomy 21) or Turner syndrome (45,X). Karyotyping can be performed on various cell types including blood cells, amniotic fluid cells, or embryonic cells, and is fundamental to reproductive genetic diagnosis and counseling.
Usage
Usage note: Can function as both noun and adjective; plural is karyotypes.
In Context
- "The fetal karyotype revealed a balanced translocation inherited from the father." — Cytogenetics report
- "Karyotype analysis showed 47,XXY consistent with Klinefelter syndrome." — Diagnostic report