Neonatal Genetic Disorders


There are chances that a baby is born with genetic disorders. These are the direct result of a mutation in one gene. There are three types of genetic disorders: Single-gene disorders, where a mutation affects one gene; Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed; Complex disorders, where there are mutations in two or more genes. Examples include Cystic fibrosis, Sickle cell disease etc.




  • Neurofibromatosis


  • Down’s syndrome


  • Glycogen storage disease


  • Thalassemia


  • Cystic fibrosis



 


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