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Related Experiment Videos

Full monosomy 21: a clinically recognizable syndrome?

J P Fryns, F D'Hondt, P Goddeeris

    Human Genetics
    |June 30, 1977
    PubMed
    Summary
    This summary is machine-generated.

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    A female newborn with full monosomy 21 presented with multiple congenital malformations. This case closely resembles three previously documented instances of this rare chromosomal disorder.

    Area of Science:

    • Genetics
    • Clinical Medicine
    • Developmental Biology

    Background:

    • Full monosomy 21 is a rare chromosomal abnormality.
    • Understanding the phenotypic spectrum of monosomy 21 is crucial for diagnosis and management.

    Observation:

    • A female newborn with multiple malformations was identified.
    • The patient exhibited characteristics consistent with full monosomy 21.

    Findings:

    • The described case shows a striking clinical resemblance to three previously reported cases of full monosomy 21.
    • This reinforces the specific phenotypic pattern associated with this condition.

    Implications:

    • Adds to the limited case data for full monosomy 21.
    • Highlights the importance of genetic analysis in newborns with complex malformations.

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  • Aids in recognizing and potentially predicting outcomes for this rare genetic disorder.