Phenotypic variability in Patau syndrome.

  title={Phenotypic variability in Patau syndrome.},
  author={Lavinia Caba and Cristina Rusu and Lăcrămioara Butnariu and Monica P{\^a}nzaru and Elena Braha and Mihail Volosciuc and Roxana Popescu and Mihaela Grămescu and Cornel Bujoran and Violeta Martiniuc and Maria Covic and E V Gorduza},
  journal={Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi},
  volume={117 2},
UNLABELLED Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly. Most frequent cytogenetic abnormality is free and homogeneous trisomy 13 (80.0%), rarely being detected trisomy mosaics or Robertsonian translocations. The objective of the study was to identify phenotypic features of trisomy 13. MATERIAL AND METHODS The retrospective study was conducted on a trial group… CONTINUE READING

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