Which syndrome is defined by a chromosome 22 deletion and the triad of heart defects, immune problems, and parathyroid deficiency?

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Multiple Choice

Which syndrome is defined by a chromosome 22 deletion and the triad of heart defects, immune problems, and parathyroid deficiency?

Explanation:
Deletion on chromosome 22q11.2 disrupts development of structures from the third and fourth pharyngeal pouches, leading to conotruncal heart defects, thymic hypoplasia with immune deficiency, and parathyroid hypoplasia causing hypocalcemia. This specific combination defines DiGeorge syndrome. Other options describe different genetic conditions (Down syndrome from trisomy 21, Turner syndrome from monosomy X, Patau syndrome from trisomy 13) that don’t present with this 22q11.2 deletion–triad pattern.

Deletion on chromosome 22q11.2 disrupts development of structures from the third and fourth pharyngeal pouches, leading to conotruncal heart defects, thymic hypoplasia with immune deficiency, and parathyroid hypoplasia causing hypocalcemia. This specific combination defines DiGeorge syndrome. Other options describe different genetic conditions (Down syndrome from trisomy 21, Turner syndrome from monosomy X, Patau syndrome from trisomy 13) that don’t present with this 22q11.2 deletion–triad pattern.

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