karyotype analysis
Pronunciation: KAIR-ee-oh-type ah-NAL-ih-sis
Chromosomal study examining the number and structure of chromosomes to diagnose genetic causes of disorders of sex development.
Full Definition
A cytogenetic test that examines the complete set of chromosomes in a cell to identify numerical or structural abnormalities that may cause endocrine disorders. In pediatric endocrinology, karyotype analysis is essential for evaluating disorders of sex development, Turner syndrome, Klinefelter syndrome, and other chromosomal conditions affecting growth and sexual development. The standard analysis examines 20 cells in metaphase, providing a resolution of approximately 5-10 megabases. Results are reported using International System for Human Cytogenetic Nomenclature (ISCN) standards. While largely superseded by chromosomal microarray for detecting small deletions and duplications, karyotype remains the gold standard for detecting balanced rearrangements and mosaicism.
Usage
Usage note: Report results using standard ISCN nomenclature for accuracy and consistency.
In Context
- "Karyotype analysis revealed 45,X/46,X,i(Xq) mosaicism consistent with Turner syndrome." — Genetics report
- "A normal 46,XY karyotype was obtained, ruling out chromosomal causes of the patient's DSD." — Diagnostic workup summary