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Related Experiment Videos

Ring chromosome 21 in a normal female.

A Kleczkowska, J P Fryns

    Annales De Genetique
    |January 1, 1984
    PubMed
    Summary

    A woman with a ring chromosome 21 experienced reproductive failure but had a healthy son following prenatal diagnosis. This case highlights successful pregnancy outcomes in individuals with chromosomal abnormalities.

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    Area of Science:

    • Genetics
    • Reproductive Medicine
    • Human Cytogenetics

    Background:

    • Ring chromosome 21 (r(21)) is a rare chromosomal abnormality.
    • Individuals with r(21) may experience reproductive challenges.
    • Genetic counseling is crucial for managing reproductive risks.

    Observation:

    • The study reports on a phenotypically normal woman with r(21).
    • She presented with a history of recurrent reproductive failure.
    • Her third pregnancy was monitored via prenatal diagnosis.

    Findings:

    • The pregnancy resulted in the delivery of a healthy baby boy.
    • The infant was karyotypically normal, with a standard chromosome set.
    • This indicates a successful reproductive outcome despite the maternal r(21).

    Implications:

    • Phenotypically normal individuals with r(21) can have successful pregnancies.
    • Prenatal diagnosis plays a vital role in ensuring fetal health.
    • This case contributes to understanding the reproductive potential in carriers of ring chromosomes.

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