ABMGG Clinical Genetics & Genomics Practice Questions - Clinical Genetics And Genomics (ABMGG) Exam

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A child with Down syndrome phenotype has a karyotype showing 46 chromosomes with a translocation between chromosomes 21 and 21: 46,XX,rob(21;21)(q10;q10),+21. What is the recurrence risk if one parent carries this translocation?

0% — no viable offspring with monosomy 21 50% — half of offspring will have trisomy 21 100% — all viable offspring will have trisomy 21 25% — one quarter of offspring affected

Correct Answer:

100% — all viable offspring will have trisomy 21

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