Which chromosome abnormality is associated with DiGeorge syndrome?

Prepare for the International Technologist in Cytogenetics ASCP exam with comprehensive flashcards and practice questions. Each question is accompanied by hints and explanations. Ace your test with confidence!

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is primarily associated with a microdeletion on the long arm of chromosome 22 at the q11.2 band. This genetic alteration results in a variety of developmental problems, including congenital heart defects, immune deficiencies, and characteristic facial features. The deletion impacts genes that are crucial for normal development, emphasizing the significance of the 22q11 region in these developmental processes.

The other listed abnormalities pertain to different genetic disorders. For instance, trisomy of chromosome 21 is associated with Down syndrome, deletion of 5p relates to Cri du Chat syndrome, and inversion of chromosome 12 does not have a well-defined syndrome linked to it. Understanding the specific genetic changes that underlie various syndromes helps in diagnosing and managing these conditions effectively.

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