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Related Experiment Videos

49,XYYYY. A case report

L Sirota, Y Zlotogora, F Shabtai

    Clinical Genetics
    |February 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    A rare 49,XYYYY karyotype in a 14-month-old boy is presented. This genetic condition is associated with distinct physical features and developmental delays.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Clinical Medicine

    Background:

    • The 49,XYYYY karyotype is an extremely rare chromosomal abnormality.
    • Understanding the phenotypic spectrum of Y chromosome polysomy is crucial for genetic counseling and patient management.

    Observation:

    • A 14-month-old male presented with a confirmed 49,XYYYY karyotype.
    • Clinical examination revealed dysmorphic facial features, brachydactyly with clinodactyly, restricted supination of the left elbow, and an inguinal hernia.

    Findings:

    • Radiological assessment identified skeletal and urinary tract abnormalities.
    • Developmental assessment indicated a developmental quotient (DQ) of 70, suggesting significant developmental delay.

    Implications:

    • This case expands the known phenotypic variability associated with Y chromosome polysomy.
    • Further research is needed to elucidate the long-term outcomes and specific management strategies for individuals with 49,XYYYY karyotype.