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Related Experiment Videos

Duplication 18p with mild influence on the phenotype.

B Johansson1, F Mertens, L Palm

  • 1Department of Clinical Genetics, University Hospital, Lund, Sweden.

American Journal of Medical Genetics
|April 1, 1988
PubMed
Summary

Duplication 18p, a rare genetic condition, was identified in a 12-year-old girl. This case highlights the phenotypic spectrum associated with this chromosomal abnormality.

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Area of Science:

  • Genetics
  • Human Chromosome Abnormalities
  • Pediatric Neurology

Background:

  • The 18p duplication syndrome is a rare chromosomal disorder characterized by partial duplication of the short arm of chromosome 18.
  • Genetic imbalances, particularly duplications, can lead to a range of developmental and physical anomalies.

Observation:

  • A 12-year-old female patient presented with symptoms including delayed speech development, mild psychomotor retardation, and epilepsy.
  • The patient exhibited minor dysmorphic features such as a low nasal bridge, anti-mongolian eye slant, low-set ears, and a narrowly arched palate.
  • Her father was a carrier of a balanced translocation, t(18;21)(p11;p11), involving the same chromosomal segment.

Findings:

  • The patient was diagnosed with 18p duplication, likely resulting from the segregation of the paternal balanced translocation.

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  • The observed clinical features in the patient are consistent with previously reported cases of 18p duplication.
  • Comparison with eight prior published cases aids in understanding the variability of this condition.

    • Implications:

    • This case contributes to the understanding of the clinical manifestations and genetic basis of 18p duplication.
    • Identifying such duplications is crucial for accurate genetic counseling and diagnosis in affected families.
    • Further research into the specific genes and regulatory elements on 18p is needed to elucidate the underlying pathogenic mechanisms.