A change in single nucleotide may results in clinical manifestation as subtle as normal part of life to severe disease affecting multiple systems in our body. Technological advances in diagnostics have increased magnification that a single nucleotide change can be detetected.
We often come across patients with dysmorphism, intellectual problem, defects or multiple malformation on one hand to abnormalities in reproduction, growth abnormalities and anomalies on the other.
Common known abnormalities are:
1. Numerical like Down syndrome and other trisomies
2. Turner Syndrome
3. Structural abnormalities in chromosomes