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Tetrasomy 9p confirmed by GALT.

P Balestrazzi, G Croci, C Frassi

    Journal of Medical Genetics
    |October 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

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    Tetrasomy 9p is a distinct genetic syndrome causing developmental delays, heart defects, and physical anomalies. This case highlights its recognizable features in a young patient.

    Area of Science:

    • Genetics
    • Pediatrics
    • Clinical Dysmorphology

    Background:

    • Mosaic tetrasomy 9p is a rare chromosomal abnormality.
    • It is associated with a range of congenital anomalies.
    • Accurate diagnosis is crucial for understanding prognosis and genetic counseling.

    Observation:

    • A 12-year-old boy presented with intellectual disability, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies.
    • Karyotype analysis revealed mosaic tetrasomy 9p involving the secondary constriction.
    • Gene dosage effect for galactose-1-P-uridyltransferase (GALT) confirmed the chromosomal abnormality.

    Findings:

    • The patient's phenotype aligns with previously described cases of tetrasomy 9p.
    • Mosaic tetrasomy 9p is characterized by a recognizable pattern of malformations.

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  • This genetic condition impacts multiple organ systems.

    • Implications:

    • Tetrasomy 9p represents a clinically recognizable syndrome with a distinct phenotype.
    • Early identification aids in managing associated health issues and developmental support.
    • Further research into tetrasomy 9p can improve understanding of genotype-phenotype correlations.