ABSTRACT
Single-gene, chromosomal, and multifactorial illnesses are the three primary categories into which genetic disorders are generally divided. Mendelian or single-gene illnesses, such as autosomal dominant, autosomal recessive, X-linked dominant, and Y-linked (holandric) disorders, are caused by mistakes in the DNA sequence of a gene. Chromosomal aberrations, such as numerical errors and structural flaws, cause chromosomal diseases. Genetic mutations that cause disease have been found with molecular and cytogenetic methods. For proper patient care, genetic counselling, and prevention methods, accurate illness identification is crucial. A basic overview of the characteristics of inheritance patterns is given, along with a brief explanation of chromosomal diseases. Additionally, various types of mutations and uses of cytogenetic and molecular tools are explored for the genetic diagnosis of juvenile genetic illnesses.
