Etymed
cytogenetics
Definition
The branch of genetics that studies the structure and function of chromosomes and their relationship to genetics and disease
Clinical context
A 28-year-old woman presents with recurrent miscarriages and intellectual disability. Karyotyping reveals a translocation between chromosomes 14 and 21. This cytogenetic abnormality is responsible for her pregnancy losses and developmental delays. Understanding chromosome structure and function is essential for diagnosing hereditary conditions.
Mnemonic
CYTO = chromosomes, GENETICS = genetic disorders, Cytogenetics studies chromosome abnormalities in disease