In: Biology
Genetic defects or disorders are the major cause of diseases and defects in phenotypes.
Chromosomal aberrations- These can be due to numerical or structural chang chromosomes in autosomes as well as sex chromosomes. Numerical changes in chromosome is the cause of Down's syndrome. Structural abnormalities are caused due to deletions, translocations, inversion of chromosome.
Abnormalities in sex chromosome causes Turner's syndrome (45 X) and Kilnefelter's syndrome (47,XXY). Autosomal dominant disorder such as achondroplasia is characterised by short limb structure.