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Related Experiment Videos

Distal trisomy 17q.

C Turleau, J de Grouchy, J P Bouveret

    Clinical Genetics
    |July 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    This study identifies a new cytogenetic syndrome in four patients with trisomy 17q231qter. Common features include profound intellectual disability, dwarfism, and distinct facial anomalies, suggesting a recognizable genetic disorder.

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    Area of Science:

    • Genetics
    • Clinical Dysmorphology
    • Cytogenetics

    Background:

    • Trisomy 17q231qter is a rare chromosomal abnormality.
    • Understanding the phenotypic spectrum of specific trisomies is crucial for genetic diagnosis.

    Observation:

    • A 3-year-old male patient with trisomy 17q231qter due to paternal translocation t(5;17)(p151;q231) was analyzed.
    • Comparison with three literature cases of trisomy 17q231qter due to familial t(17;21)(q23;q22) revealed shared clinical features.

    Findings:

    • Common features in the four patients include profound mental retardation, dwarfism, frontal bossing, narrow eyes, abnormal ears, cleft palate, and hyperlaxity.
    • The consistent phenotype suggests a specific syndrome associated with trisomy 17q231qter.

    Implications:

    Related Experiment Videos

    • Delineation of a new cytogenetic syndrome associated with trisomy 17q231qter.
    • This finding aids in the diagnosis and understanding of rare chromosomal disorders.
    • Further research can refine the critical region and genotype-phenotype correlations for 17q231qter trisomy.