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Partial monosomy 12p13.1----13.3.

D R Romain, J Goldsmith, L M Columbano-Green

    Journal of Medical Genetics
    |July 1, 1987
    PubMed
    Summary
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    This study presents a case of partial monosomy 12p in a young girl, a genetic condition. She exhibits milder symptoms compared to previously reported cases, highlighting variability in genetic disorder expression.

    Area of Science:

    • Genetics
    • Human Chromosome Studies
    • Pediatric Medicine

    Background:

    • Partial monosomy for the short arm of chromosome 12 (12p) is a rare chromosomal abnormality.
    • Understanding the phenotypic spectrum and clinical variability of 12p deletion syndrome is crucial for diagnosis and management.

    Observation:

    • A 27-month-old female presented with a specific chromosomal deletion: 46,XX,del(12)(p13.1----p13.3).
    • Clinical examination revealed developmental delay, protruding tongue, strabismus, unusual facies, micrognathia, and speech delay.

    Findings:

    • The patient's phenotype is less severe than previously documented cases of partial monosomy 12p.
    • This case expands the known clinical spectrum for del(12)(p13.1----p13.3).

    Implications:

    Related Experiment Videos

    • This case underscores the significant variability in clinical presentation for 12p deletion syndrome.
    • Further research into genotype-phenotype correlations in partial monosomy 12p is warranted.
    • Improved understanding can aid in genetic counseling and early intervention strategies for affected children.