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Related Experiment Videos

Familial partial trisomy 15.

M M Power, R G Barry, D E Cannon

    Annales De Genetique
    |September 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

    This study describes a family with two siblings experiencing partial trisomy 15. Maternal chromosome analysis identified mosaicism, a condition where cells have different chromosome numbers, contributing to the genetic disorder.

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    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Reproductive Biology

    Background:

    • Partial trisomy 15 is a rare chromosomal abnormality.
    • Understanding its inheritance patterns is crucial for genetic counseling.
    • Maternal chromosomal abnormalities can lead to recurrent genetic disorders in offspring.

    Observation:

    • A family with two affected siblings exhibiting partial trisomy 15 was studied.
    • Maternal chromosomal analysis revealed a mosaic karyotype: 46,XX/47,XX,+15q-.
    • This mosaicism indicates a mixture of normal and trisomic cells in the mother.

    Findings:

    • The identified maternal mosaicism (46,XX/47,XX,+15q-) is a likely cause of partial trisomy 15 in the siblings.
    • Comparison with 17 previously reported cases highlights varied etiologies, including sporadic events and maternal balanced translocations.

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  • The specific 15q- abnormality suggests a particular region of chromosome 15 is involved.

    • Implications:

    • This case contributes to understanding the spectrum of trisomy 15 and its genetic basis.
    • Accurate diagnosis of maternal mosaicism is vital for predicting recurrence risk.
    • Further research into the mechanisms of mitotic nondisjunction in maternal mosaicism is warranted.