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Related Experiment Videos

[Monosomy 4 p-- (Wolf-Hirschorn's syndrome)].

J Battin, J Channarond, J Génaudeau

    Archives Francaises De Pediatrie
    |November 1, 1977
    PubMed
    Summary

    4p-- syndrome is clinically distinct from 5p-- syndrome due to median line fusion abnormalities. This case highlights specific midline defects, hypotrophy, and developmental issues in 4p-- syndrome.

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    Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.

    Prenatal diagnosis·2002

    Area of Science:

    • Genetics
    • Clinical Medicine
    • Developmental Biology

    Background:

    • Distinguishing between chromosomal deletion syndromes is crucial for accurate diagnosis and management.
    • 4p-- syndrome and 5p-- syndrome (Cri-du-chat syndrome) are distinct genetic disorders with overlapping, yet unique, phenotypic features.

    Observation:

    • The reported case presents a unique phenotype associated with 4p-- syndrome.
    • Key observations include fusion abnormalities along the median line of the body.

    Findings:

    • Specific abnormalities noted were cleft palate, iris coloboma, and sacral fistula.
    • The patient also exhibited significant hypotrophy, severe mental retardation, and epilepsy, characteristic of 4p-- syndrome.

    Implications:

    • These findings emphasize the importance of recognizing median line fusion defects in differentiating 4p-- syndrome from other similar genetic conditions.
    • Accurate phenotypic characterization aids in genetic counseling and understanding the spectrum of 4p-- syndrome.

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