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Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence
D A Graham1, M M Jewitt, P H Fitzgerald
1Department of Paediatrics, Christchurch School of Medicine, Christchurch Hospital, New Zealand.
Clinical Genetics
|January 1, 1992
Summary
This study describes a rare case of trisomy 18 mosaicism where all lymphocytes showed trisomy 18, but fibroblasts had mosaicism. This finding highlights that lymphocyte karyotypes alone may not diagnose trisomy 18 mosaicism.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Trisomy 18 (Edwards syndrome) is a chromosomal disorder typically associated with severe developmental abnormalities.
- Mosaicism involves having cell populations with different chromosomal complements.
- Accurate diagnosis of chromosomal abnormalities is crucial for patient management and genetic counseling.
Observation:
- A patient presented with trisomy 18 in all peripheral lymphocytes.
- Cultured fibroblasts from the same patient exhibited mosaicism for trisomy 18.
- The patient displayed mild, nonspecific dysmorphic features but possessed normal intelligence.
Findings:
- This case represents a previously undescribed presentation of trisomy 18 mosaicism.
- Complete trisomy 18 in peripheral lymphocytes was observed alongside fibroblast mosaicism.
- The karyotype of lymphocytes alone was not diagnostic without corresponding morphological features.
Implications:
- The findings suggest that lymphocyte karyotyping may not be sufficient for diagnosing trisomy 18 mosaicism.
- Further investigation into the correlation between lymphocyte and tissue-specific chromosomal abnormalities is warranted.
- This case expands the understanding of phenotypic variability in trisomy 18 mosaicism.