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47XX, + 13/46,XX mosaicism: a case report
Acta Geneticae Medicae Et Gemellologiae
|January 1, 1977
Summary
This study details a patient with D1 trisomy mosaicism, presenting a normal cell line alongside lymphocytes with an extra D chromosome. This case offers insights into trisomy 13 mosaicism.
Area of Science:
- Genetics
- Human Chromosomal Abnormalities
- Developmental Biology
Background:
- Trisomy 13 (Patau syndrome) is a severe genetic disorder.
- Mosaicism, where an individual has cell lines with different chromosome numbers, can occur in trisomies.
- Understanding mosaic trisomy is crucial for accurate diagnosis and prognosis.
Observation:
- A patient presented with a normal 46,XX cell line.
- Analysis revealed 15.4% of lymphocytes exhibited a 47,XX, +D chromosome constitution.
- This indicates D1 trisomy mosaicism.
Findings:
- The case demonstrates a specific instance of D1 trisomy mosaicism.
- The presence of both normal and trisomic cell lines was confirmed.
- This highlights the variability in chromosomal makeup within an individual.
Implications:
- This case provides a valuable model for studying trisomy 13 mosaicism.
- Further research into the mechanisms and clinical impact of mosaic trisomies is warranted.
- Accurate cytogenetic analysis is essential for diagnosing and managing such conditions.