Which mechanism is primarily responsible for the symptoms associated with DiGeorge syndrome?

DiGeorge syndrome is primarily characterized by a deletion of a small segment of chromosome 22, specifically involving 22q11.2. This deletion leads to the development of various symptoms due to the loss of several genes that are crucial for the formation of certain structures during embryonic development, including the thymus and parathyroid glands. The deficiency in these structures contributes to the immunodeficiency and hypoparathyroidism seen in patients with DiGeorge syndrome.

Since this condition is fundamentally a result of a chromosomal deletion rather than a point mutation or other genetic alteration mechanisms, it is important to recognize that the deletion directly underlies the primary symptoms associated with the syndrome. Understanding this mechanism reinforces the concept that chromosomal abnormalities can have profound effects on human health by disrupting normal gene function and leading to developmental disorders.