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Related Experiment Videos

Distinct 15q genotypes in Russell-Silver and ring 15 syndromes

P K Rogan1, J R Seip, D J Driscoll

  • 1Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, USA.

American Journal of Medical Genetics
|March 1, 1996
PubMed
Summary

Ring 15 chromosome and Russell-Silver syndrome share symptoms, but Russell-Silver syndrome is not caused by 15q deletions. Ring 15 chromosome phenotypes may relate to uniparental disomy, similar to Prader-Willi and Angelman syndromes.

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Area of Science:

  • Genetics
  • Human Molecular Genetics
  • Clinical Genetics

Background:

  • Ring 15 chromosome [r(15)] and Russell-Silver syndrome (RSS) exhibit overlapping phenotypes, including short stature, developmental delay, triangular face, and clinodactyly.
  • The potential for a shared genetic etiology between r(15) and RSS warrants investigation into chromosomal abnormalities in chromosome 15q.

Purpose of the Study:

  • To investigate the extent of deletions in chromosome 15q in patients with r(15) and RSS.
  • To determine if phenotypic overlap between r(15) and RSS is linked to common genetic causes.
  • To explore the role of uniparental disomy in the phenotypes observed in r(15) patients.

Main Methods:

  • Deletion analysis of chromosome 15q was performed in 5 patients with r(15), 1 patient with del 15q26.1-qter, and 5 patients with RSS.

Related Experiment Videos

  • Genetic markers in distal 15q were used to assess diploidy in RSS patients.
  • Parental origin of the ring chromosome was analyzed in r(15) patients.

    • Main Results:

    • All RSS patients were diploid for distal 15q markers, suggesting RSS is unlikely caused by single allele expression or linked loci in this region.
    • r(15) and del 15q25.1-qter patients showed at least 3 distinct telomeric breakage sites; one r(15) patient had both terminal and interstitial deletions.
    • Growth impairment in r(15) patients did not correlate with deletion size, but parental origin of the ring chromosome was associated with Prader-Willi (PWS) or Angelman (AS) syndrome-like phenotypes.

    Conclusions:

    • Phenotypic overlap between r(15) and RSS is not explained by 15q deletions in RSS patients.
    • PWS-like or AS-like phenotypes in r(15) patients may result from postzygotic loss of the ring chromosome, leading to uniparental inheritance in some tissues.
    • The findings suggest that uniparental disomy, rather than simple deletions, may underlie certain phenotypes associated with ring 15 chromosome.