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Published on: August 6, 2019
Tetraploid/diploid mosaicism with generalized aggressive periodontitis
Tolga F Tözüm1, Ezel Berker, Hakan Akincibay
1Hacettepe University, Faculty of Dentistry, Department of Periodontology, Sihhiye, Ankara, Turkey. ttozum@hacettepe.edu.tr
Journal of Periodontology
|September 21, 2005
Summary
Tetraploid/diploid mosaicism, a rare genetic condition, can manifest with severe aggressive periodontitis. Early dental intervention and regular follow-ups are crucial for managing oral health in affected individuals.
Area of Science:
- Human Genetics
- Periodontology
- Developmental Biology
Background:
- Tetraploidy, a rare change in chromosome number, typically presents with growth delays and craniofacial abnormalities.
- Oral manifestations of tetraploid/diploid mosaicism have not been previously documented in medical literature.
Observation:
- A 13-year-old patient with severe periodontal disease exhibited long eyelashes and mandibular micrognathia.
- Intraoral examination revealed generalized gingival edema, bleeding on probing, and radiographic evidence of alveolar bone destruction.
Findings:
- The patient was diagnosed with generalized aggressive periodontitis, with Actinobacillus actinomycetemcomitans detected in subgingival samples.
- Genetic analysis confirmed tetraploid/diploid mosaicism (92,XXYY (25%)/46,XY (75%)).
Implications:
- Severe periodontal conditions, including aggressive periodontitis, may be associated with tetraploid/diploid mosaicism.
- Patients with this condition require frequent dental monitoring and appropriate periodontal therapy.
- Comprehensive physical examination and medical consultation are essential for managing patients with tetraploid/diploid mosaicism.
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