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Related Experiment Videos

Mosaic hexasomy 21.

A Ketupånyå, B F Crandåll, K Blanchard

    Journal of Medical Genetics
    |June 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    Hexasomy 21, an extremely rare genetic condition with four extra copies of chromosome 21, was identified in a female infant with multiple malformations. This finding was confirmed in both amniotic fluid and skin cells.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Human Pathology

    Background:

    • Aneuploidy, the presence of an abnormal number of chromosomes, is typically associated with developmental abnormalities.
    • While trisomies (three copies of a chromosome) are relatively common, higher-order chromosome copy number variations, such as hexasomy (six copies), are exceptionally rare in non-neoplastic conditions.

    Observation:

    • This report details a rare case of mosaic hexasomy 21 in a female infant presenting with multiple congenital malformations.
    • The condition was initially detected in prenatal samples (amniotic fluid cells) and subsequently confirmed in postnatal somatic cells (skin fibroblasts).

    Findings:

    • The study identified mosaic hexasomy 21, a condition characterized by six copies of chromosome 21, in a live-born infant.
    • This represents the first documented instance of hexasomy 21 outside of neoplastic (cancerous) tissue, suggesting potential roles in development.

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    Implications:

    • This case expands the known spectrum of chromosomal abnormalities compatible with life and development.
    • Understanding the mechanisms and consequences of high-order aneuploidies like hexasomy 21 can provide insights into chromosomal instability and developmental processes.