Clinical Manifestations of Genetic Disorders

A genetic disorder is a genetic problem caused by one or more abnormalities in the genomic structures or Gene arrangement especially a condition that is present from birth called congenital disease. activating mutations of LH receptor gene presents with precocious puberty in boys results in raised activity of the LH axis which is analogous to the presentation of LH secreting pituitary adenomas is an example of clinical manifestation of genetic disorder.Examples of multifactorial inheritance are Alzheimer′s disease, heart disease,Obesity,Diabetes arthritis, Chromosomes, distinct structures made up of DNA and sequences of amino acids, chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can result in disease. Abnormalities in chromosomes occurs due to a problem with cell division. Which causes due to chemical changes.or environmental changes.examples like uv radiations which results in insertion , duplication or deletion in DNA sequences. Examples are Down syndrome, Turner syndrome.

 

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