One of the parents who have a child with Down syndrome, has a balanced translocation between chromosome 15 and 21. What advice will you provide to the couple to prevent a child being born with Down syndrome?
Correct Answer: Prenatal diagnosis and advice abortion
Description: a. Prenatal diagnosis and advice abortion(Ref: Nelson's 20/e p 610-615)Taking into view the chances of baby affected with Downs syndrome, prenatal diagnosis is advocated and abortion advised, if fetus is affected.Recurrence risk of Down syndrome, when a couple already has a child with Down syndrome depends on the karyotype of the affected child & his parents:Karyotype of affected childKaryotype of parentsRecurrence riskFatherMotherTrisomy 21NN 1%Translocation 21q21qNN 1%Either parent carrierQ100%NN 1%Translocationother chr with chr 21carrierN1-3%Ncarrier10-15%
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Pediatrics
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