Deletion Syndromes
Deletion syndromes are genetic disorders caused by the loss of a segment of DNA from a chromosome. This missing genetic material can lead to various physical and developmental issues, depending on which genes are affected. Common examples include Cri du Chat syndrome and 22q11.2 deletion syndrome, each associated with specific symptoms and health challenges.
The severity and range of symptoms in deletion syndromes can vary widely among individuals. Some may experience intellectual disabilities, growth delays, or distinctive facial features, while others might have heart defects or other medical conditions. Early diagnosis and intervention can help manage symptoms and improve quality of life.