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Ocular findings in triploidy.

A B Fulton, R O Howard, D M Albert

    American Journal of Ophthalmology
    |December 1, 1977
    PubMed
    Summary
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    Triploidy and triploid mosaicism can cause a wide range of ocular and systemic abnormalities. These chromosomal errors lead to diverse developmental issues and physical findings in affected individuals.

    Area of Science:

    • Genetics and Developmental Biology
    • Clinical Ophthalmology
    • Human Genetics

    Background:

    • Triploidy (69 chromosomes) is a severe chromosomal abnormality.
    • Triploid mosaicism involves a mix of normal (46 chromosomes) and triploid cells.
    • Understanding the phenotypic spectrum associated with these conditions is crucial for diagnosis and management.

    Observation:

    • A liveborn male with true triploidy (69,XXY) presented with cebocephaly, midline nostril, cleft palate, syndactyly, ambiguous genitalia, and significant ocular abnormalities.
    • Ocular findings in the true triploidy case included hypotelorism, blepharophimosis, microcornia, iris coloboma, cataract, persistent hyaloid vasculature, retinal dysplasia, and optic atrophy.
    • Two cases of triploid mosaicism presented with distinct systemic findings including hemiatrophy, growth/mental retardation, seizures, syndactyly, obesity, and ptosis, with variable ocular involvement.

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    Findings:

    • True triploidy (69,XXY) was associated with severe craniofacial, genitourinary, limb, and extensive ocular anomalies.
    • Triploid mosaicism cases displayed diverse systemic features like hemiatrophy, intellectual disability, and obesity.
    • Ocular findings varied, ranging from severe abnormalities in true triploidy to specific findings like blepharoptosis in mosaicism, with one mosaic case showing normal ocular results.

    Implications:

    • These findings highlight the broad and variable phenotypic spectrum of triploidy and triploid mosaicism.
    • Early recognition of characteristic ocular and systemic features can aid in diagnosing these rare chromosomal disorders.
    • Further research is needed to understand the genotype-phenotype correlations and long-term outcomes in individuals with triploidy.