A woman comes to clinic because of her family history of tetralogy of Fallot (a conotruncal heart…

A woman comes to clinic because of her family history of tetralogy of Fallot (a conotruncal heart defect). Her father was born with a heart defect, has immunity problems, and schizophrenia. Her brother has cleft palate and a heart defect as well. The patient was studied cytogenetically and found to have a microdeletion of 22q11.2 by FISH. What is the best estimate of her recurrence risk for a future pregnancy? (A) 2%–3% (B) 5%–6% (C) 10% (D) 50% (E) 100%

 

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