Which syndrome is associated with a deletion on chromosome 22?

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DiGeorge's syndrome, also known as 22q11.2 deletion syndrome, is specifically characterized by a deletion on chromosome 22. This genetic alteration can lead to a range of clinical features due to the loss of several important genes. Common manifestations of DiGeorge's syndrome include congenital heart defects, immune system issues, facial dysmorphisms, and developmental delays. The presence of a deletion in this region is a critical diagnostic characteristic and helps separate DiGeorge's syndrome from other genetic disorders.

In contrast, Turner syndrome arises from a complete or partial absence of one of the two X chromosomes, while Down syndrome is caused by an extra copy of chromosome 21, known as trisomy 21. Klinefelter syndrome is associated with the presence of additional X chromosomes in males (typically 47,XXY). Each of these conditions stems from different chromosomal abnormalities, making the distinct deletion on chromosome 22 a hallmark feature of DiGeorge's syndrome.

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