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Related Experiment Videos

[Partial monosomy 11q. A new case].

J L Bresson, A Noir

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

    Partial monosomy 11q, characterized by an 11qter deletion, presents with severe malformations. This de novo deletion, often with a breakpoint at 11q23.1, leads to significant congenital anomalies.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Genetics

    Background:

    • Monosomy 11q is a rare chromosomal disorder.
    • Characterized by a deletion on the long arm of chromosome 11.
    • Associated with a spectrum of developmental abnormalities.

    Observation:

    • A patient presented with partial monosomy 11q due to a de novo 11qter deletion.
    • The deletion breakpoint was identified at 11q23.1, consistent with previous reports.
    • The infant exhibited typical malformations including trigonocephaly, facial dysmorphia, and congenital heart disease.

    Findings:

    • Confirmed partial monosomy 11q resulting from an 11qter deletion.
    • The de novo deletion occurred at the 11q23.1 region.
    • Clinical presentation included severe congenital anomalies consistent with 11q monosomy.

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    Implications:

    • Highlights the critical role of the 11q23.1 region in development.
    • Underscores the phenotypic variability and severity of 11q deletions.
    • Informs genetic counseling and prenatal diagnosis for similar cases.