title: Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases.
abstract: BACKGROUND
  Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing.
  
  
  METHODS
  In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies).
  
  
  CONCLUSIONS
  All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families.
  
  
  CONCLUSIONS
  The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management.
authors: Genetics Department, IOMC "Alfred Rusescu", Bucharest, Romania.
authors: Vasilica
authors: V
authors: Plaiasu
authors: Diana
authors: D
authors: Ochiana
authors: Gabriela
authors: G
authors: Motei
authors: Ioana
authors: I
authors: Anca
authors: Adrian
authors: A
authors: Georgescu