Medical genetics is a branch of medicine concerned with the application of genetics to medical care, particularly to hereditary disorders. It encompasses the areas of personalized medicine, gene therapy and predictive medicine. Certain genetic syndromes are Down syndrome, chromosomal rearrangements, fragile X syndrome, neurofibromatosis, Turner syndrome, etc. Chromosome studies are used to determine the cause of birth defects, developmental delay, autism, or dysmorphic features. For cases with a suspicion of metabolic condition, quantitative amino acid analysis, urine organic acid analysis, enzyme testing, etc. are performed. Diet, medication and enzyme replacement therapy may be used to reduce or manage long-term complications. This book elucidates the concepts and innovative models around prospective developments with respect to medical genetics. It explores all the important aspects of medical genetics in the present day scenario. It is appropriate for students seeking detailed information in this area as well as for experts.