In cytogenetics, the term "velocardiofacial syndrome" is synonymous with which diagnosis?

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!

Velocardiofacial syndrome is indeed synonymous with DiGeorge syndrome, as both conditions are associated with a deletion of a portion of chromosome 22, specifically 22q11.2. This genetic alteration can lead to a variety of phenotypic features, including cardiac anomalies, facial dysmorphisms, and palatal abnormalities. The overlap in clinical presentation and the genetic basis supports the interchangeability of these terms.

In the context of this question, while the other syndromes listed—Turner syndrome, Prader-Willi syndrome, and Williams syndrome—are distinct genetic disorders with their own specific chromosomal abnormalities and clinical features, they do not share the underlying genetic etiology or the specific features associated with velocardiofacial syndrome. Each of these conditions has unique characteristics that differentiate them from DiGeorge syndrome and velocardiofacial syndrome, reinforcing why the correct answer is linked to DiGeorge syndrome.

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