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The trisomy 9p syndrome.

W R Centerwall, J W Beatty-DeSana

    Pediatrics
    |November 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

    Trisomy 9p is a distinct chromosomal syndrome with recognizable features. Crucial determinants of its characteristics are located in the distal half of the number 9 short arm.

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    Area of Science:

    • Genetics
    • Clinical Genetics
    • Cytogenetics

    Background:

    • Trisomy 9p, first described in 1970, is increasingly recognized.
    • It is potentially the fourth most common autosomal syndrome after trisomies 21, 13, and 18.

    Observation:

    • Distinctive physical features include growth and developmental delay, specific facial characteristics (e.g., downturned mouth, globular nose, slanted eyes), and unusual dermatoglyphics.
    • A review of 20 reported cases and photographs of ten children are presented.
    • A new case highlights the utility of chromosome banding techniques (C, G, Q, R) for diagnosis.

    Findings:

    • Confirmation of trisomy 9p requires specialized laboratory techniques like chromosome banding.
    • Clinical features overlap with other trisomies of chromosome 9.

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  • The distal half of the number 9 short arm contains the critical determinants for the syndrome's classical features.

    • Implications:

    • Establishes trisomy 9p as a defined clinical chromosomal entity.
    • Highlights the importance of cytogenetic analysis for accurate diagnosis.
    • Advances understanding of genotype-phenotype correlations in chromosomal abnormalities.