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Tetrasomy 18p: a distinctive syndrome.

H Rivera, M Möller, A Hernández

    Annales De Genetique
    |January 1, 1984
    PubMed
    Summary

    Tetrasomy 18p, a chromosomal abnormality, is identified as a distinct syndrome in infants presenting with developmental delays and neurological signs. This finding aids in diagnosing and understanding this rare genetic condition.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Clinical Dysmorphology

    Background:

    • Genetic abnormalities can lead to significant developmental and neurological impairments in infants.
    • Accurate karyotyping is crucial for diagnosing complex genetic syndromes.
    • Identifying distinct chromosomal syndromes aids in prognosis and genetic counseling.

    Observation:

    • A 10-month-old female infant exhibited growth retardation, psychomotor delay, and pyramidal signs.
    • Karyotype analysis revealed a 47,XX,inv(9)(p11q13),+i(18p) chromosomal complement.
    • The inverted chromosome 9 was maternally inherited, while the isochromosome 18p origin was undetermined.

    Findings:

    • Comparative literature analysis of 17 similar cases supports tetrasomy 18p as a unique syndrome.
    • The presence of isochromosome 18p is associated with a recognizable pattern of clinical features.
    • This specific chromosomal anomaly, tetrasomy 18p, presents a distinct clinical entity.

    Implications:

    • Recognition of tetrasomy 18p as a syndrome improves diagnostic accuracy for affected infants.
    • Understanding this syndrome facilitates targeted clinical management and supportive care.
    • Further research into the etiology and phenotypic spectrum of tetrasomy 18p is warranted.

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