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Disappearing trisomy 8 mosaicism

H F Mark1, J A Bier

  • 1Laboratory of Cytogenetics, FISH, and Genotoxicology, Rhode Island Hospital, Providence 02903, USA.

Annals of Clinical and Laboratory Science
|July 1, 1997
PubMed
Summary
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Disappearing trisomy 8 mosaicism was observed in a patient initially suspected of having fragile X syndrome. This highlights the importance of comprehensive genetic analysis, including GTG-banding, for accurate diagnosis.

Area of Science:

  • Genetics
  • Cytogenetics

Background:

  • The fragile X syndrome is a common genetic cause of intellectual disability.
  • Diagnostic protocols for fragile X syndrome often involve screening for specific mutations on the X chromosome.

Observation:

  • A case presented with features initially suggestive of fragile X syndrome.
  • The patient exhibited trisomy 8 mosaicism, a condition where some cells have an extra copy of chromosome 8.
  • This trisomy 8 mosaicism phenomenon, termed "disappearing mosaicism," resolved over time, with subsequent genetic testing showing normal karyotypes.

Findings:

  • The patient initially diagnosed with trisomy 8 mosaicism showed no chromosomal abnormalities upon re-evaluation using GTG-banding and fluorescent in situ hybridization (FISH).
  • This case illustrates "disappearing mosaicism," a rare phenomenon where chromosomal abnormalities become undetectable.

Related Experiment Videos

  • Analysis of patient data revealed that other chromosomal abnormalities were as frequent as fragile X syndrome in referred patients.

    • Implications:

    • Routine comprehensive karyotyping, including GTG-banding, is crucial for patients suspected of fragile X syndrome to detect other potential chromosomal abnormalities.
    • The phenomenon of "disappearing mosaicism" warrants further investigation in genetic diagnostics.
    • Accurate diagnosis requires examining the entire genome, not solely focusing on specific gene mutations.