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Related Experiment Videos

The 9p- syndrome.

O S Alfi, G N Donnell, P W Allderdice

    Annales De Genetique
    |March 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

    Terminal deletion of chromosome 9 short arm (9p-) causes a distinct syndrome with intellectual disability and specific facial and digital features. These clinical findings contrast with trisomy 9p syndrome, highlighting a small, potentially overlooked genetic deletion.

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    Area of Science:

    • Genetics
    • Clinical Medicine
    • Human Malformations

    Background:

    • Describes six patients with terminal deletions of the short arm of chromosome 9 (distal to 9p22).
    • Focuses on a specific genetic abnormality and its phenotypic expression.

    Observation:

    • Patients exhibit a consistent set of clinical features: intellectual disability, sociable personality, trigonocephaly, mongoloid eyes, broad flat nasal bridge, anteverted nostrils, long philtrum, short neck, and long digits.
    • A predominance of whorl patterns on fingertips was noted.

    Findings:

    • The observed clinical features are opposite to those seen in trisomy 9p syndrome.
    • The deleted segment on chromosome 9p is small and may be difficult to detect.

    Implications:

    Related Experiment Videos

    • Delineates a clinically recognizable syndrome associated with 9p terminal deletions (9p-).
    • Aims to increase awareness of this syndrome to aid in the diagnosis of small, potentially overlooked chromosomal deletions.