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A further microchromosome with centromeric association

H Rivera1, M G Dominguez, A I Vasquez

  • 1División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1997
PubMed
Summary

A rare extra small chromosome (supernumerary marker chromosome) was identified in a boy with developmental delays. This marker chromosome frequently associated with other chromosomes, particularly at their centromeric regions.

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Area of Science:

  • Genetics
  • Cytogenetics
  • Human Genetics

Background:

  • The identification and characterization of supernumerary marker chromosomes are crucial for understanding their clinical significance.
  • Karyotyping is a fundamental technique for detecting chromosomal abnormalities.

Observation:

  • A 5-year-old boy presented with mental retardation and minor dysmorphisms, exhibiting a 46,XY/47,XY,+mar karyotype.
  • The marker chromosome, present in 68% of lymphocyte metaphases, was small, pale, and monocentric, resembling Yp.
  • This marker frequently engaged in interchromosomal associations, with 52% of these associations being centromeric.

Findings:

  • The observed frequency and distribution of centromeric associations involving the marker chromosome align with previous rare instances.

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  • The marker's characteristics (nonsatellited, monocentric, annular) suggest a potential predisposition to centromeric association.

    • Implications:

    • The study highlights the importance of recognizing and analyzing supernumerary marker chromosomes, even those with unusual behavior.
    • Understanding the behavior of such microchromosomes can contribute to improved genetic diagnostics and counseling.
    • Further research into the mechanisms of interchromosomal associations involving marker chromosomes is warranted.