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Related Experiment Videos

Balanced translocation in fetal wastage.

H J Kim, B G Kousseff, L Y Hsu

    Obstetrics and Gynecology
    |February 1, 1975
    PubMed
    Summary

    A balanced reciprocal translocation, t(4;11), was identified in a family with recurrent pregnancy loss and abnormal infants. Advanced chromosome banding techniques were crucial for detecting this subtle genetic abnormality, which was missed by conventional karyotyping.

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    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Reproductive Medicine

    Background:

    • Balanced reciprocal translocations can lead to reproductive issues, including spontaneous abortions and abnormal offspring.
    • Identifying subtle chromosomal rearrangements is critical for genetic counseling and reproductive planning.

    Purpose of the Study:

    • To identify the underlying chromosomal abnormality in a family experiencing recurrent pregnancy loss and abnormal infant births.
    • To evaluate the diagnostic utility of advanced chromosome banding techniques in detecting cryptic translocations.

    Main Methods:

    • Conventional karyotyping was initially performed.
    • High-resolution chromosome banding techniques were employed to analyze the chromosomes.
    • Genetic analysis was conducted on the mother and her children.

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    Main Results:

    • A balanced reciprocal translocation, t(4;11)(q25;q13), was identified in the mother and her phenotypically normal children.
    • The translocation involved the long arms of chromosomes 4 and 11.
    • Conventional karyotyping failed to detect the translocation due to the similar size of the exchanged segments.

    Conclusions:

    • Advanced chromosome banding techniques are essential for accurately diagnosing subtle chromosomal translocations, such as t(4;11).
    • This translocation may be associated with recurrent pregnancy loss and abnormal offspring in the affected family.
    • Accurate genetic diagnosis is vital for informed genetic counseling and reproductive decision-making.