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Familial ring (20) chromosomal mosaicism.

E Back1, I Voiculescu, M Brünger

  • 1Institut für Humangenetik und Anthropologie Universität, Freiburg, Federal Republic of Germany.

Human Genetics
|September 1, 1989
PubMed
Summary

Ring (20) chromosomal mosaicism, a condition with two cell lines, was found in three family members across two generations. This genetic condition causes epilepsy and developmental issues, with severity varying among carriers.

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Area of Science:

  • Genetics
  • Cytogenetics
  • Neurology

Background:

  • Ring chromosome 20 syndrome (r(20)) is a rare chromosomal abnormality.
  • Mosaicism, the presence of two or more cell lines with different genotypes, can occur in chromosomal disorders.

Observation:

  • Three family members across two generations presented with ring (20) chromosomal mosaicism in lymphocyte and fibroblast cultures.
  • Two affected individuals exhibited typical r(20) syndrome features: mental retardation, microcephaly, behavioral disorders, and drug-resistant epilepsy.

Findings:

  • The proband, most severely affected, had the highest percentage of cells with the ring (20) chromosome and the greatest ring instability.
  • The mother, a carrier of ring (20) mosaicism, was phenotypically normal, suggesting variable expressivity.

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  • The mechanism of ring (20) formation is presumed to involve terminal breakage and reunion, though no genetic material loss was detected.

    • Implications:

    • The study raises questions about the inheritance of ring chromosomal mosaicism.
    • A potential explanation involves the transmission of a chromosome 20 with inherited instability, predisposing to breaks and de novo ring formation.
    • Further research is needed to understand the genetic basis and inheritance patterns of ring (20) syndrome.