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Genetic disorders: Apert syndrome. Introduction Genetic disorders, refers to a medical condition which has resulted from a mutation
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GENETIC DISORDERS: APERT SYNDROME. INTRODUCTION Genetic disorders, refers to a medical condition which has resulted from a mutation to a gene or a set of genes. This causes a change in the DNA sequence. Making a normal gene change, its behaviour, causing a genetic disorder. When considering genetic disorders four areas need to be considered, chromosome abnormalities, multifactarial disorders, single gene disorders and mitochondrial disorders. Chromosome abnormality will have either, a whole chromosome, or a single segment is missing, or is altered in some way or it is duplicated. This can occur to one or more of the 46 of the Human chromosomes, which 23 genes coming from each parent; this is made up of 46 autosomes and two sex chromosomes. Single gene disorders, occur when there is a mutation to a protein product of the cell, the gene is either altered or missing. Multifactoral genes abnormally, are when there is a...
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