Pediatric genetic disorders

The infant genetic disease is a hereditary problem caused by at least one irregularity of the genome, in particular a condition available from birth. Most hereditary problems are very rare and influence a child in a few thousand or millions. Hereditary disorders can be innate, transmitted from one generation to the next. In another hereditary problem, imperfections could be created by new transformations or modifications of the DNA. Due to the wide range of genetic disorders, diagnosis is also a major problem for researchers. Most genetic diseases are diagnosed at birth or early childhood. Gene therapy is done to diagnose a child with a genetic disorder.

  • Aneuploidy
  • Mosaicism

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