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Related Experiment Videos

Ring chromosome 15: characterization by array CGH.

Ian A Glass1, Katherine A Rauen, Emily Chen

  • 1Department of Pediatrics, University of Washington, M2-9, 4800 Sand Point Way NE, Seattle, 98105, USA. ianglass@u.washington.edu

Human Genetics
|November 4, 2005
PubMed
Summary
This summary is machine-generated.

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Ring chromosome 15 (r(15)) is rare, making genotype-phenotype correlations difficult. Array CGH revealed that larger deletions in r(15) patients correlate with more severe phenotypes, aiding diagnosis.

Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Genetics

Background:

  • Ring chromosome 15 (r(15)) is an uncommon chromosomal abnormality.
  • Precise genotype-phenotype correlations are challenging due to difficulties in assessing euchromatic loss and mosaicism.

Observation:

  • Two patients with r(15) exhibited discordant phenotypes despite similar findings on conventional cytogenetics and FISH.
  • Patient 1, diagnosed prenatally, presented with severe growth retardation, heart defects, and developmental delay.
  • Patient 2, diagnosed postnatally, was short-statured but independently living.

Findings:

  • Both patients showed loss of the 15q subtelomeric region via FISH.
  • Array comparative genomic hybridization (array CGH) identified a ~6 Mb deletion in distal 15q for Patient 1.

Related Experiment Videos

  • Array CGH revealed a smaller deletion, including the 15q subtelomeric and an interstitial clone, in Patient 2.

    • Implications:

    • Array CGH is crucial for accurately characterizing deletions in ring chromosomes.
    • The severity of the phenotype in r(15) correlates with the molecularly defined size of the deletion.
    • This study enhances understanding of r(15) and facilitates genotype-phenotype correlations.