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Related Experiment Videos

Extra small metacentric chromosome identified as i(18p).

M Rocchi, M Stormi, N Archidiacono

    Journal of Medical Genetics
    |February 1, 1979
    PubMed
    Summary

    A rare supernumerary chromosome, identified as i(18p), was diagnosed at birth. This case highlights the associated psychomotor retardation and immunological issues in the first year of life.

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    Area of Science:

    • Genetics
    • Immunology
    • Developmental Pediatrics

    Background:

    • Supernumerary chromosomes are rare genetic anomalies.
    • Isochromosome 18p, denoted as i(18p), results from an unbalanced rearrangement of chromosome 18.
    • Early diagnosis and monitoring are crucial for affected individuals.

    Observation:

    • A neonate presented with a supernumerary metacentric small chromosome.
    • Cytogenetic analysis confirmed the chromosome as i(18p).
    • Clinical follow-up from birth to 12 months documented developmental progress.

    Findings:

    • The case demonstrates the characteristic clinical features of i(18p) syndrome.
    • Significant psychomotor retardation was observed during the first year.
    • Immunological aspects were monitored, revealing potential immune system involvement.

    Implications:

    • This case contributes to the understanding of i(18p) genetics and phenotype.
    • Highlights the importance of comprehensive clinical and immunological assessment in infants with chromosomal abnormalities.
    • Informs genetic counseling and management strategies for families affected by i(18p).

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