Anatomy Training Programmes:
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
- Gonadal dysgenesis and abnormal sexual development.
- Spontaneous abortuses