Trisomy 13 mosaicism syndrome with atypical plurimalformative phenotype

Introduction: Orofacial clefts are important congenital malformations of the lip, palate, or both caused by complex genetic and environmental factors. Aims and Objectives: The present study aims to highlight the phenotypic heterogeneity of trisomy 13 mosaicism. Material and Methods: We present one clinical case of a 30-year-old, Caucasian woman who is pregnant for the first time. Techniques of work study: anamnesis, clinical examination, serological tests for Toxoplasmosis, Rubeola, CMV and Herpes, ultrasound examination at 20 weeks gestation with General Electric Echographe Voluson E10 BT18, amniocentesis, fetal chromosome analysis and genetic counseling. Results: Ultrasound examination showed a viable singleton fetus with intra-uterine growth restriction, oligohydramnios, bilateral cleft lip and cleft palate, hypoplastic nasal bone and bilateral polycystic kidneys. Amniocentesis was done, and the fetal chromosomal analysis revealed a fetus with 46, XY/47, XY,+13 mosaic karyotype. After a complex genetic counselling the parents opted, to terminate the pregnancy. The autopsy confirm the prenatal ultrasound diagnosis. Conclusion: Routine ultrasound examination during pregnancy and specific genetic testing are essential for the early prenatal detection of major structural fetal anomalies associated with rare genetic chromosome syndromes.

Phenotypic heterogeneity of impacted third molar tooth: family case study

Tooth impaction is a pathological condition where a tooth fails to attain its normal functional position. The present study aims to highlight the phenotypic heterogeneity of impacted third molars in a Caucasian family, to investigate the characteristics of the dental phenotype, to evidence the diversity of dental phenotype, and to identify the inheritance mode of the condition. Detailed anamnesis, clinical examination, complementary tests (panoramic radiographs), family study and pedigree analysis. Phenotypic characteristics of impacted third molar tooth in our family case report was: Severe horizontal impaction of the mandibular right third molar, Angular impaction of the maxillary right third molar and angular impaction of the maxillary left third molar, Angular impaction of the mandibular left third molar and partial eruption of the maxillary right third molar, Horizontal impaction of the mandibular left third molar and Angular impaction of the mandibular left third molar. The inheritance mode of the impacted third molar tooth in the family case report was: from mother to both daughters’ transmission, from mother to both sons’ transmission, and from mother to daughter transmission. Family study and pedigree analysis are very important for illustrate the genetic basis of impacted teeth.