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Related Experiment Videos

A rare case: mosaic trisomy 22.

N Basaran1, H Berkil, N Ay

  • 1Osmangazi University, Medical Faculty, Department of Medical Genetics, Osmangazi University, Medical Faculty, TR-26480 Eskişehir, Turkey. nbasaran@ogu.edu.tr

Annales De Genetique
|January 5, 2002
PubMed
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This case study highlights mosaic trisomy 22 in a child with severe intellectual disability and distinctive physical features. Fluorescence in situ hybridization (FISH) analysis proved crucial for diagnosing this chromosomal abnormality in mosaicism.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Mosaic trisomy 22 is a rare chromosomal abnormality.
  • It can lead to a range of developmental issues, including intellectual disability and dysmorphic features.
  • Accurate diagnosis is essential for understanding prognosis and potential management.

Observation:

  • A 9-year-old female presented with severe mental retardation, facial dysmorphism, microcephaly, and joint hyperflexibility.
  • Initial chromosome analysis revealed a mosaic pattern: 46,XX[98]/47,XX,+22[2].
  • Skin biopsy and FISH analysis confirmed mosaic trisomy 22: 46,XX[73]/47,XX,+22[27].

Findings:

  • The patient's physical characteristics were consistent with her confirmed mosaic trisomy 22 genetic constitution.

Related Experiment Videos

  • Fluorescence in situ hybridization (FISH) analysis was instrumental in detecting the low-level mosaicism.
  • This case underscores the diagnostic utility of FISH in identifying chromosomal abnormalities in mosaic states.

    • Implications:

    • This case demonstrates the importance of advanced cytogenetic techniques like FISH for diagnosing rare genetic conditions.
    • Accurate diagnosis of mosaic trisomy 22 can aid in genetic counseling and understanding the phenotypic spectrum.
    • Further research into mosaic chromosomal abnormalities is warranted to improve diagnostic and therapeutic strategies.