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The penta-X syndrome

A Monheit, U Francke, B Saunders

    Journal of Medical Genetics
    |October 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    The penta-X syndrome, characterized by a 49,XXXXX chromosomal constitution, presents a distinct pattern of malformations. Studies show four inactive X chromosomes replicate late, but not synchronously, in affected individuals.

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    Area of Science:

    • Genetics
    • Human Chromosome Abnormalities
    • Developmental Biology

    Background:

    • The penta-X syndrome is a rare chromosomal disorder associated with a 49,XXXXX karyotype.
    • Understanding the clinical and molecular characteristics of this syndrome is crucial for diagnosis and management.

    Observation:

    • A case report details a child with a 49,XXXXX chromosomal constitution, bringing the total reported cases to 12.
    • Clinical features were compared to previously described cases, confirming a recognizable pattern of malformations.

    Findings:

    • X chromosome replication studies using BrdU labeling were performed on the patient's cells.
    • The four presumably inactive X chromosomes demonstrated late replication, though not in a strictly synchronous manner.

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    Implications:

    • This case contributes to the understanding of the penta-X syndrome, reinforcing its status as a specific clinical entity.
    • Further research into X chromosome inactivation patterns may elucidate the pathogenesis of associated malformations.