ABMGG Clinical Genetics & Genomics Practice Questions - Clinical Genetics And Genomics (ABMGG) Exam

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Which microdeletion syndrome is characterized by conotruncal cardiac defects, palatal abnormalities, hypocalcemia, T-cell immunodeficiency, and a deletion at 22q11.2?

Williams syndrome DiGeorge syndrome / 22q11.2 deletion syndrome Cri du chat syndrome Wolf-Hirschhorn syndrome

Correct Answer:

DiGeorge syndrome / 22q11.2 deletion syndrome

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