Chromosomal syndromes are classified as autosomal or sex chromosomal. There could be a disorder of number or structure. Involvement of autosomes has more devastating effects like mental and physical disability or intrauterine death. Sex chromosomal abnormalities have comparatively milder phenotypic effects; however they affect the reproductive system more severely. A group of chromosomal syndromes which occur due to a defect involving multiple genes is known as Contiguous syndrome. Another chromosomal syndrome is the Chromosomal instability syndrome. There is a definite phenotype for each chromosomal syndrome. Clinical diagnosis not only helps in confirmation but helps in recurrence risk estimation.