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Old 08-29-2012
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Default Pediatric Question genetics recurence risk in future siblings

An infant is diagnosed with a given disorder
below. Which of these poses the greatest recurrence
risk for this patient’s future siblings?
(A) Hirschsprung disease
(B) cystic fibrosis
(C) ventricular septal defect
(D) trisomy 21
(E) trisomy 13
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Old 08-29-2012
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? CF. not sure.
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Old 08-29-2012
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Correct answer..

Cystic fibrosis (CF) is inherited in an autosomal recessive fashion, creating a 25% recurrence risk for subsequent pregnancies. Hirschsprung
disease usually is sporadic with a risk of about 3%–5% to siblings of an affected case. There are rare families with Hirschsprung disease transmitted
as an autosomal dominant or recessive pattern of inheritance. Ventricular septal defects are also multifactorial in inheritance, the recurrent risk for siblings of a patient with congenital heart disease is 3%–4%. Trisomies are most typically
sporadic events and recurrence varies depending on the mother’s age. A small proportion of trisomies are transmitted by a parent as part of a balanced translocation with higher recurrence risks in those families.
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