By Susha Cheriyedath, M.Sc.Reviewed by Dr. Damien Jonas Wilson, MD

​

​

​

​

 

Cytogenetics is a field of study that deals with chromosomes and related abnormalities. Chromosome analysis is also known as karyotyping and involves the pairing of homologous chromosomes.

 

Abnormalities in chromosomes cause several genetic disorders leading to developmental delay, congenital malformations, mental retardation, and infertility. Cytogenetic analysis is very crucial in the diagnosis of oncologic and hematologic disorders.

It helps in the diagnosis and classification of disease as well as in planning treatment regimens and monitoring the status of disease.