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Related Experiment Videos

Recurrence risks for Down syndrome.

T J Lister, O Frota-Pessoa

    Human Genetics
    |January 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    Recurrence risks for Down syndrome from inherited translocations are lower for mothers over 30 (0.05%) than for younger mothers (0.3%). Karyotyping effectiveness is also discussed.

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    Area of Science:

    • Genetics
    • Reproductive Medicine
    • Pediatrics

    Background:

    • Down syndrome is a significant genetic disorder.
    • Inherited translocations are a known cause of Down syndrome.
    • Maternal age is a factor in Down syndrome risk.

    Purpose of the Study:

    • To estimate recurrence risks for Down syndrome in infants born to mothers with inherited translocations.
    • To compare these risks based on maternal age.
    • To evaluate the effectiveness of karyotyping in preventing Down syndrome births.

    Main Methods:

    • Literature review of empirical data on Down syndrome recurrence.
    • Risk estimation stratified by maternal age (under 30 and 30 and over).
    • Calculation of probabilities for multiple affected siblings.

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    Main Results:

    • Recurrence risks for Down syndrome due to inherited translocations are approximately 0.3% for mothers under 30 and 0.05% for mothers 30 and over.
    • The probability of two siblings having Down syndrome with an inherited translocation is estimated at 18.2% for younger mothers and 2.7% for older mothers.
    • Discussion on the role of karyotyping in preventing Down syndrome.

    Conclusions:

    • Maternal age significantly influences Down syndrome recurrence risks associated with inherited translocations.
    • Karyotyping plays a role in managing and potentially preventing Down syndrome births in families with translocation history.