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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
  • Infertility
  • Gonadal dysgenesis and abnormal sexual development.
  • Spontaneous abortuses

 
:: SSIMS & RC, Davangere ::