What is the consequence of homozygous deletions in chromosomes?

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Homozygous deletions occur when both copies of a gene or a segment of the chromosome are missing. This results in a significant consequence for the organism because the absence of genes can disrupt important biological functions and developmental processes. In many cases, the loss of these genes can lead to lethality, particularly if the deleted genes are essential for survival, such as those involved in critical metabolic pathways or cell cycle regulation.

This deletion can affect gene dosage, protein production, and overall cellular function, leading to severe phenotypic consequences. In organisms, the removal of essential genes through homozygous deletions typically results in either non-viable offspring or severe developmental issues if the organism survives. Therefore, in the context of genetics and chromosomal studies, the presence of homozygous deletions is often associated with critical health impacts or lethal outcomes in the organism.

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