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Ring 18 molecular assessment and clinical consequences.

Erika Carter1, Patricia Heard, Minire Hasi

  • 1Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas.

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Ring chromosome 18 (r(18)) is a rare genetic condition. Molecular and cytogenetic analyses are crucial for understanding r(18) and its varied clinical presentations, as mosaicism is unlikely to cause significant phenotypic variability.

Keywords:
chromosome 18mosaicismring chromosome 18

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Area of Science:

  • Genetics
  • Cytogenetics
  • Molecular Biology

Background:

  • Ring chromosome 18 (r(18)) is a rare chromosomal abnormality.
  • Existing literature primarily consists of case reports and small case series.
  • Understanding the genotypic and phenotypic spectrum of r(18) is limited.

Purpose of the Study:

  • To characterize the genetic makeup and clinical features of a cohort of 30 individuals with r(18).
  • To investigate the role of mosaicism in phenotypic variability.
  • To establish the importance of combined molecular and cytogenetic analyses for r(18) diagnosis.

Main Methods:

  • Microarray comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH) were performed on 30 individuals with r(18).
  • Cytogenetic measurements were compared between initial diagnosis and later study time points.
  • Clinical features were documented for genotype-phenotype correlation analysis.

Main Results:

  • Each participant exhibited a unique pattern of hemizygosity on the p and q arms of the ring chromosome 18.
  • aCGH detected no deletion in four cases, but FISH identified telomeric sequences in two of these, highlighting the need for both techniques.
  • No significant changes in mosaicism percentage were observed over time, suggesting it's not a primary driver of phenotypic variation in r(18).

Conclusions:

  • Combined aCGH and FISH are essential for comprehensive characterization of ring chromosome 18, including deletions and structural integrity.
  • Dynamic mosaicism is unlikely to be a major contributor to the wide range of clinical presentations in individuals with r(18).
  • The extreme genotypic variability in r(18) currently precludes direct genotype-phenotype correlations, necessitating further research into specific hemizygous genes.