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The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

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Ring autosomes: some unexpected findings.

L Caba1, C Rusu, Plăiaşu

  • 1"Grigore T. Popa" University of Medicine and Pharmacy Iasi, Department of Medical Genetics, Iasi, Romania.

Balkan Journal of Medical Genetics : BJMG
|September 21, 2013
PubMed
Summary
This summary is machine-generated.

Ring chromosomes are rare genetic conditions often causing developmental issues. This study details six pediatric cases, highlighting mosaicism and potential links to specific syndromes like oculo-auriculo-vertebral spectrum.

Keywords:
Chromosomal instabilityMosaicismRare diseaseRing chromosomeVariable phenotype

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Area of Science:

  • Genetics
  • Clinical Cytogenetics
  • Pediatric Dysmorphology

Background:

  • Ring chromosomes are uncommon chromosomal abnormalities.
  • They are frequently associated with genetic material loss and diverse phenotypic abnormalities.
  • Mosaicism in ring chromosomes can lead to variable clinical presentations.

Purpose of the Study:

  • To present the experience of three Romanian cytogenetic laboratories with ring chromosomes.
  • To describe six pediatric cases involving ring chromosomes 5, 13, 18, and 21.
  • To investigate the clinical features and cytogenetic characteristics of these rare chromosomal anomalies.

Main Methods:

  • Karyotyping was performed on peripheral blood samples.
  • Genetic analysis identified ring chromosomes in six pediatric patients.
  • Clinical data and phenotypic features were correlated with cytogenetic findings.

Main Results:

  • Six cases of ring chromosomes (chr5, chr13, chr18, chr21) were identified in children with multiple congenital anomalies.
  • Mosaicism for the ring chromosome was observed in three cases, indicating chromosomal instability.
  • A potential association between ring chromosome 5 and oculo-auriculo-vertebral spectrum was noted.

Conclusions:

  • Ring chromosomes, even in mosaic form, are linked to significant phenotypic abnormalities in children.
  • Cytogenetic analysis is crucial for diagnosing ring chromosomes and understanding their clinical impact.
  • Further research is needed to elucidate the specific mechanisms and associations of various ring chromosomes.