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Constitutional tetrasomy 18p.

S R Bakshi1, M M Brahmbhatt, P J Trivedi

  • 1Cell Biology Division, Department of Cancer Biology, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad 380 016, India. gcriad1@sancharnet.in

Indian Pediatrics
|May 3, 2006
PubMed
Summary
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This study reports the first case of constitutional tetrasomy 18p in India, identified in a 3-year-old girl with developmental delays. The rare genetic condition was confirmed through advanced chromosomal analysis.

Area of Science:

  • Genetics
  • Human Genetics
  • Chromosomal Abnormalities

Background:

  • Tetrasomy 18p is a rare chromosomal disorder characterized by the presence of four copies of the short arm of chromosome 18.
  • It is typically associated with developmental delay, intellectual disability, and dysmorphic facial features.

Observation:

  • A 3-year-old Indian female presented with developmental delay and dysmorphic features.
  • Her karyotype revealed 47,XX,+mar, indicating an extra marker chromosome.
  • Molecular fluorescence in situ hybridization (m-FISH) and multiplex-FISH banding (m-BAND) identified the marker as an isochromosome of the 18p arm, i(18p).

Findings:

  • The proband was diagnosed with constitutional tetrasomy 18p.
  • Parents and a sibling had normal karyotypes, suggesting the i(18p) arose de novo.

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  • A family history of intellectual disability and dysmorphic features on the paternal side was noted, but their karyotypes were normal, warranting further investigation.

    • Implications:

    • This case expands the geographic representation of tetrasomy 18p.
    • Accurate diagnosis through advanced cytogenetic techniques like m-FISH and m-BAND is crucial for understanding rare chromosomal disorders.
    • Further research into the genetic basis and phenotypic variability of tetrasomy 18p is needed, especially concerning familial recurrence and potential mosaicism.