Gould's Pathophysiology for the Health Professions, 6e
Gould's Pathophysiology for the Health Professions, 6e
6th Edition
ISBN: 9780323414425
Author: Robert J Hubert BS
Publisher: Saunders
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Chapter 21, Problem 1LO
Summary Introduction

To give: The definitions of the terms genetic, chromosomal, developmental, and multifactorial disorders.

Concept introduction: Genetics is the study of genes at all levels, such as the way they act in the cell and how they are transmitted from the parents to the offspring. Genes consist of DNA that codes for synthesis of functional proteins. Genes have alternate forms known as alleles which are transmitted to the offspring. Alleles occupy the same position known as locus on chromosomes. Chromosomes are the structures that carry genes.

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Definitions:

Genetic disorders: If there is a mutation in a gene or genes, it changes the instructions in gene sequence to form proteins. As a result, the protein does not work properly or is absent leading to a medical condition. This medical condition is referred as genetic disorder.

Chromosomal disorders: These disorders arise when chromosomes or part of chromosomes get missed or are changed, such as chromosome translocations. For example, Down syndrome is a chromosomal disorder. It is a type of genetic disorders.

Developmental disorder: These are also known as developmental disabilities and are characterized by group of conditions caused due to impairment in physical, learning, or behavior areas. They may affect physical ability or mental ability, or may affect both.

Multifactorial disorders: These disorders are caused when inheritance and phenotypic expression are determined by multiple genes at different loci with certain environmental factors. The effects of genes are cumulative with each gene contributing some part in the final phenotype.

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