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Related Experiment Videos

[Trisomy 10 p. A previously reported case explained by binding].

C Turleau, M Doussau de Bazignan, M Roubin

    Annales De Genetique
    |March 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

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    Trisomy 10p, a rare genetic condition, was identified in an infant due to a maternal balanced translocation. This chromosomal abnormality led to severe developmental issues and distinct facial and physical features.

    Area of Science:

    • Genetics
    • Human Biology
    • Developmental Biology

    Background:

    • Balanced translocations can lead to unbalanced chromosomal complements in offspring.
    • Accurate chromosomal analysis is crucial for diagnosing genetic disorders.

    Observation:

    • A male infant presented with severe hypotonia and psychomotor retardation.
    • Distinct dysmorphic features included dolichocephalia, high forehead, narrow lips, and low-set ears.

    Findings:

    • Re-examination revealed the infant had trisomy 10p, resulting from a maternal t(4;10)(q35;p11) translocation.
    • The infant exhibited low birth weight, short length, bone/joint anomalies, and dextrocardia.

    Implications:

    • Trisomy 10p is associated with a recognizable pattern of congenital anomalies and developmental delay.

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  • Understanding translocation inheritance patterns aids in genetic counseling and prenatal diagnosis.