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Cytogenetics involves the study of human chromosomes.

Chromosome disorders form a major category of genetic disease and the study of chromosomes is an important laboratory diagnostic procedure to confirm various genetic diseases/birth defects.

Following are the most common Genetic syndromes which has chromosomal defect

Autosomal: Down syndrome (Trisomy 21), Patau syndrome (trisomy 13), Edward,s syndrome (trisomy 18)

Sex chromosomal: Turner syndrome (45,X), klinfelter syndrome(XXY) Therefore, its important to perform the Chromosome analysis (Karyotyping) in the following:

• Suspected children with genetic syndromes
• Family history of genetic syndromes
• Couple with multiple miscarriages
• Congenital malformations and mental retardation
• Infertility
• Gonadal dysgenesis and abnormal sexual development.
• Spontaneous abortuses