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Parental trisomy 21 mosaicism.

D J Harris, M L Begleiter, J Chamberlin

    American Journal of Human Genetics
    |January 1, 1982
    PubMed
    Summary
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    Maternal mosaicism for chromosome 21 can lead to Down syndrome (trisomy 21) in offspring. This study found that parental mosaicism explains approximately 3% of trisomy 21 cases, with a segregation ratio of 0.43.

    Area of Science:

    • Genetics
    • Cytogenetics
    • Reproductive Biology

    Background:

    • Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
    • Parental mosaicism, where an individual has cell populations with different chromosomal compositions, is a known factor in genetic disorders.
    • Understanding the genetic origins of trisomy 21 is crucial for genetic counseling and risk assessment.

    Observation:

    • A family with three children diagnosed with trisomy 21 was investigated.
    • The mother was identified as a phenotypically normal mosaic for trisomy 21, possessing both normal and trisomy 21 cell lines.
    • Fluorescent heteromorphism analysis of chromosome 21 confirmed that two of the three copies of chromosome 21 in two affected offspring were inherited from the mother.

    Findings:

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    • Review of five cytogenetic surveys indicated that parental mosaicism accounts for an estimated 3% of couples who have a child with trisomy 21.
    • Analysis of 17 informative sibships involving a mosaic parent estimated the segregation ratio for trisomy 21 to be 0.43 +/- 0.11.
    • This suggests a significant contribution of maternal mosaicism to the recurrence risk of Down syndrome.

    Implications:

    • The findings highlight the importance of considering parental mosaicism in the genetic evaluation of Down syndrome.
    • Accurate identification of parental mosaicism can improve recurrence risk counseling for families.
    • Further research into the mechanisms and prevalence of parental mosaicism in trisomy 21 is warranted.