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Related Experiment Videos

[17p trisomy].

M O Rethoré, F Renault, J Lafourcade

    La Semaine Des Hopitaux : Organe Fonde Par L'Association D'Enseignement Medical Des Hopitaux De Paris
    |July 7, 1983
    PubMed
    Summary
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    Trisomy 17p, a genetic condition caused by translocation, presents a distinct pattern of developmental abnormalities in infants. This includes microcephaly, facial differences, and severe intellectual disability.

    Area of Science:

    • Genetics
    • Human Development
    • Medical Science

    Background:

    • Trisomy 17p is a rare chromosomal abnormality.
    • Parental translocations can lead to partial trisomies in offspring.
    • Understanding these conditions is crucial for genetic counseling and diagnosis.

    Observation:

    • A 22-month-old boy presented with trisomy 17p due to a t(10;17)(q26.3;p11) translocation.
    • Literature review identified five additional cases of trisomy 17p.

    Findings:

    • A common pattern of malformations was observed, including microcephaly, frontal bossing, mandibular hypoplasia, persistent mouth opening, high-arched palate, webbed neck, hypotonia, growth retardation, and severe intellectual disability.
    • Distinctive features included permanent myosis from iris anomaly, low blood folate levels, and unique hand malformations (flexed fingers, extended little finger).

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    Implications:

    • This case and literature review contribute to defining the clinical spectrum of trisomy 17p.
    • Highlights the importance of detailed phenotypic analysis in chromosomal abnormalities.
    • May inform future diagnostic approaches and genetic counseling for families with translocation risks.