Objectives: Diploid-triploid masoicism is a rare chromosomal abnormality and patients with diploid- triploid mixoploidy may survive with less severe anomalies than pure triploidy. The main clinical features are severely delayed growth and craniofacial abnormalities. Although physical features are well defined, to best of our knowledge oral symptoms were not reported. This report describes the oral features with clinical and radiographic parameters, and treatment of a 13-year-old boy with diploid-tetraploid masoicism with severe mandibular alveolar bone destruction during 12 months follow up, and further reviews the literature. Methods: The patient was referred for the evaluation of severe alveolar bone destruction. He was not using any medication and he did not report any medical history. Significant inflammation, edema of gingiva and severe bleeding on probing was evaluated. There were moderate amounts of bacterial plaque and materia alba accumulation. His frequent complaint was sore gums during tooth brushing. Radiological evaluation demonstrated alveolar bone destruction, especially the mandibular bone including mandibular alveolar bone growth retardation. He was referred for his physical examination followed by cytogenetic analysis, abdominal and pelvic ultrasonographies, complete blood count, systemic hormone level determination, peripheral blood smear and immunological assessment. Results: Cytogenetic analysis revealed 46, XY (%75)/ 92, XXYY (%25) karyotype. Total T3 level (2.74nmol/l), serum total Ig-E (141IU/ml), total serum acid phosphatase (5.5mg/dl), inorganic phosphore (8.1U/l) were above the normal ranges. No anomalies were determined in neutrophil chemotaxis and their killing capacity. Actinobacillus actinomycetemcomitans and Campylobacter rectus were isolated from subgingival samples. Although he was given periodontal and orthodontic treatments during his follow-up visits, progressive alveolar bone destruction continued leading to the loss of mandibular teeth. Conclusion: Actinobacillus actinomycetemcomitans and Campylobacter rectus, and alveolar bone growth retardation may have an impact on severe alveolar bone destruction; further, the progression of localized aggressive periodontitis should be carefully evaluated in diploid-tetraploid masoicism.

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