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49,XXXXX syndrome

R Fragoso, A Hernandez, M L Plascencia

    Annales De Genetique
    |January 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

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    This report details the seventeenth case of 49,XXXXX aneuploidy in a young girl, highlighting characteristic facial features and potential links to congenital heart defects. Further research is needed to understand the genetic basis and clinical implications of this rare condition.

    Area of Science:

    • Genetics
    • Pediatrics
    • Medical case reports

    Background:

    • The 49,XXXXX aneuploidy is a rare chromosomal abnormality.
    • Understanding the phenotypic characteristics and clinical course of 49,XXXXX aneuploidy is crucial for diagnosis and management.

    Observation:

    • A 3-year-old female with 49,XXXXX aneuploidy presented with distinctive facial features including epicanthal folds, hypertelorism, a broad nasal bridge, upslanting palpebral fissures, and a prominent mandible with a pointed chin.
    • These features bear some resemblance to those observed in trisomy 21.

    Findings:

    • The rarity of 49,XXXXX cases compared to 49,XXXXY suggests a stronger negative selection against the former.
    • Severe congenital cardiopathy is a significant comorbidity in 49,XXXXX aneuploidy, potentially influenced by the number of inactivated X chromosomes.

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    Implications:

    • This case contributes to the limited medical literature on 49,XXXXX aneuploidy, aiding in the recognition of its characteristic phenotype.
    • The observed association with congenital heart defects warrants further investigation into the underlying mechanisms and potential genotype-phenotype correlations.
    • Understanding the differential selection pressures between 49,XXXXX and 49,XXXXY aneuploidies may provide insights into early developmental processes and the impact of X chromosome dosage.