Article
Phenotypic variability in Patau syndrome.
Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi - 1 Jan 2000
Caba Lavinia, Rusu Cristina, Butnariu Lacramioara, Panzaru Monica, Braha Elena, Volosciuc M, Popescu Roxana, Gramescu Mihaela, Bujoran C, Martiniuc Violeta, Covic M, Gorduza E V
Abstract excerpt
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...
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