1 MCQs in Pediatrics for NEET PG
A 2-year-old boy with Down syndrome is referred for genetic counseling. Karyotyping reveals 46 chromosomes with a Robertsonian translocation der(14;21). The structure marked **B** in the diagram represents a balanced Robertsonian (14;21) translocation carrier. Parental karyotyping shows the mother is a balanced carrier. What is the empiric recurrence risk for Down syndrome in future pregnancies of this couple?
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