Genetics in Pediatrics

The advancement in genetic researches promised a great response towards the better treatment of genetic disorders. A careful testing and screening should be considered foe examining the actual cause of disease, the exact idea of defected gene or chromosome etc.

The study of genetics at the chromosome level is called cytogenetic. Chromosomal abnormalities occur in 0.4% of live births and is a common cause of mental retardation and congenital disorders.There are two types of chromosomal abnormalities : numerical and structural. Numerical ones deal with the change in number of chromosomes and the structural ones deals with the structure change of chromosomes. These chromosomal changes occurs due to the abnormal cell cycle occurred during the cell division, occurs due to the changes in the replication of the cells either the genomic cells or somatic cells.

  • Immunogenicity of Stem cells
  • Dextrocardia
  • Down syndrome
  • Sickle cell Anemia
  • Phenylketonuria

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