title: Tetraploid/diploid mosaicism with generalized aggressive periodontitis.
abstract: BACKGROUND
  Changes of chromosome number diploid to triploid or tetraploid states are rare in human pregnancies, where the main clinical features of tetraploidy are delayed growth and/or craniofacial abnormalities. The present report describes the oral features of tetraploid/diploid mosaicism. Although the medical literature described the physical manifestations of this genetic abnormality, the oral features of this disorder were not previously described.
  
  
  METHODS
  A 13-year-old patient presented because of his severe periodontal conditions. Clinical, radiological, microbiologic, immunologic, and genetic examinations were conducted.
  
  
  RESULTS
  Long eyelashes and mandibular micrognathia were noticeable in his extraoral examination. Intraoral examination revealed significant generalized edema of the gingiva and severe sulcular bleeding on probing. Generalized maxillary and mandibular alveolar destruction was determined with radiographic examination. Actinobacillus actinomycetemcomitans was also detected in his subgingival samples. He was diagnosed as generalized aggressive periodontitis. His medical cytogenetic examination revealed 92,XXYY (25%)/46,XY (75%) karyotype indicating tetraploid/diploid mosaicism. He was given initial and advanced periodontal therapy and he is currently under a routine follow-up period.
  
  
  CONCLUSIONS
  This report provides information on the oral characteristics of tetraploid/diploid mosaicism and describes periodontal treatment. Severe periodontal conditions such as aggressive periodontitis may accompany tetraploid/diploid mosaicism subjects and these patients should be frequently seen by their dental practitioners. It is suggested that initial and/or advanced periodontal procedures may be a way of treating tetraploid/diploid mosaicism subjects with aggressive periodontitis. The importance of physical examination and medical consultation is also discussed.
authors.affiliation: Hacettepe University, Faculty of Dentistry, Department of Periodontology, Sihhiye, Ankara, Turkey. ttozum@hacettepe.edu.tr
authors.forename: Tolga F
authors.initials: TF
authors.lastname: Tözüm
authors.forename: Ezel
authors.initials: E
authors.lastname: Berker
authors.forename: Hakan
authors.initials: H
authors.lastname: Akincibay
authors.forename: Ozlem
authors.initials: O
authors.lastname: Ozer
authors.forename: Dilek
authors.initials: D
authors.lastname: Aktaş
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
authors.forename: Sükran C
authors.initials: SC
authors.lastname: Sekerci
authors.forename: Hakan
authors.initials: H
authors.lastname: El
authors.forename: Kenan
authors.initials: K
authors.lastname: Eratalay
authors.forename: Ergül
authors.initials: E
authors.lastname: Tunçbilek
mesh_terms: D000293:Adolescent; D003773:Dental Plaque / Q000382:microbiology / Q000628:therapy; D004171:Diploidy; D005886:Gingival Hypertrophy / Q000235:genetics* / Q000382:microbiology / Q000628:therapy; D006801:Humans; D008297:Male; D009030:Mosaicism; D010518:Periodontitis / Q000235:genetics* / Q000382:microbiology / Q000628:therapy