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Updated: Jun 9, 2025

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Genetic Testing as a Source of Information Driving Diagnosis and Therapeutic Plan in a Multidisciplinary Case
Cristina Grippaudo1,2, Concetta Cafiero3, Nicola Maria Grande2
1UOC di Clinica Odontoiatrica, Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
Abstract:
In many cases, the etiopathogenesis of oral cavity diseases depends on the presence of variants in some genes. Being able to identify these variants defines the possibilities and limits of therapies. This multidisciplinary case describes several pathologies of the oral cavity in a young patient affected by type 1 diabetes. The patient presented with an impacted palatal canine. Further investigation revealed cervical root resorption of the upper right central incisor. Genetic testing was performed for interleukin, VDR receptor genes, and the evaluation of periodontopathogenic bacteria. The mutational analysis carried out for the VDR polymorphisms and the IL1A, IL1B, IL6, and IL10 polymorphisms showed the presence of pathogenetic variants. The results for bacterial load showed the presence of periodontal pathogenes. The first intervention was the intentional replantation of the incisor. The second intervention was the orthodontic recovery of the impacted canine, using light forces and a hybrid anchorage with a miniscrew. At the end of orthodontic treatment, a crack was found in the upper left first premolar, which was extracted. Throughout treatment, non-invasive periodontal interventions were performed periodically to control periodontal inflammation. This case is an example of the integration of genetic analyses into the multidisciplinary diagnostic pathway.
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