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[Partial trisomy 18q].

M T Darnaude, I López Pajares, A Delicado

    Anales Espanoles De Pediatria
    |June 1, 1987
    PubMed
    Summary
    This summary is machine-generated.

    This study details a new case of partial trisomy 18 (chromosome 18 long arms, q12-qter), identified in a patient whose mother had a balanced translocation. Key features include developmental delays and congenital heart defects, with longer survival than complete trisomy 18.

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    Area of Science:

    • Genetics
    • Clinical Medicine
    • Human Chromosome Abnormalities

    Background:

    • Partial trisomy of chromosome 18, specifically the long arms (18q), is a rare chromosomal abnormality.
    • It arises from unbalanced segregation of parental translocations, leading to an extra copy of specific chromosomal segments.

    Observation:

    • A novel case of partial trisomy 18 (18q12-qter) is presented, resulting from a maternal balanced translocation t(4;18).
    • The patient exhibited characteristic features including psychomotor and growth retardation, congenital heart disease, dolicocephaly, low-set malformed ears, micrognathia, and a short neck with redundant skin.

    Findings:

    • Comparison with previously reported cases of 18q partial trisomy highlights consistent clinical manifestations.
    • The identified trisomic segment (18q12-qter) is associated with a distinct phenotype.

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    Implications:

    • This case expands the understanding of genotype-phenotype correlations in partial trisomy 18.
    • Patients with this condition demonstrate a potentially longer survival rate compared to those with complete trisomy 18.
    • Genetic counseling for families with balanced translocations involving chromosome 18 is crucial for risk assessment.