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Related Experiment Videos

Partial 8p- syndrome

S R Patil, J W Hanson

    Journal De Genetique Humaine
    |December 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    A terminal deletion on chromosome 8 short arm was identified in a young girl with developmental delays and distinct facial features. This finding suggests a potential new genetic syndrome associated with this specific chromosomal abnormality.

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    Area of Science:

    • Genetics
    • Clinical Medicine
    • Developmental Biology

    Background:

    • Chromosomal abnormalities can lead to various developmental and physical disorders.
    • Terminal deletions, specifically on chromosome 8, are rare and their phenotypic consequences require further elucidation.
    • Understanding genotype-phenotype correlations is crucial for diagnosing and managing genetic syndromes.

    Purpose of the Study:

    • To report a case of a terminal deletion on the short arm of chromosome 8 (8p21 to 8qter).
    • To describe the clinical presentation of a patient with this deletion, including dysmorphic craniofacial features and developmental retardation.
    • To compare the observed features with previously reported cases to identify a potentially recognizable syndrome.

    Main Methods:

    • Karyotyping was performed to identify the chromosomal abnormality.

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  • Clinical examination documented the patient's dysmorphic features and developmental status.
  • Literature review and comparative analysis of clinical data from similar cases.

    • Main Results:

    • A terminal deletion in chromosome 8p21 to 8qter was diagnosed in a two-year-old girl.
    • The patient exhibited significant dysmorphic craniofacial features and global developmental retardation.
    • Comparison with existing literature suggests a pattern consistent with a specific genetic syndrome.

    Conclusions:

    • The identified terminal deletion of chromosome 8p21-qter is associated with a distinct set of clinical features.
    • The findings support the delineation of a recognizable syndrome linked to this chromosomal aberration.
    • Further studies are warranted to confirm and characterize this syndrome.