title: [Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital].
abstract: BACKGROUND
  Chromosome aberrations (CA) are the main etiology of multiple congenital malformations, recurrent abortions and intellectual disability (ID) specifically of moderate and severe degree. They account for 0.3 to 1% of newborns (NB) and 6 of 10,000 NB have chromosome imbalances with submicroscopic deletions or duplications smaller than 10 MB that are overlooked by conventional cytogenetic studies.
  
  
  OBJECTIVE
  To report the results of cytogenetic and molecular studies performed in patients with a congenital malformation disease or ID with or without dysmorphic features, attended in a regional hospital.
  
  
  METHODS
  One hundred and eighty patients, 27 with a clinical diagnosis of Down syndrome, derived for the suspicion of a genetic disease, were studied. A karyogram was performed in all of them and in 30 cases additional molecular studies, such as fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR) were carried out.
  
  
  RESULTS
  Among the 153 patients without Down syndrome, 20 (13%) had a genetic abnormality responsible for the altered phenotype. Sixteen had a chromosome aberration (structural and numerical aberrations in 75 and 25% respectively) and four had genetic molecular alterations. Additional studies were performed to confirm or better characterize the chromosome aberration in 13 of the 30 patients in whom these were requested.
  
  
  CONCLUSIONS
  Chromosome and specific genetic molecular studies in selected cases help to characterize patients with genetic diseases. The collaboration between academic and health care facilities is crucial.
authors: Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile. malliend@inta.uchile.cl
authors: M Angélica
authors: MA
authors: Alliende
authors: Bianca
authors: B
authors: Curotto
authors: Patricio
authors: P
authors: Guerra
authors: Lorena
authors: L
authors: Santa María
authors: Reinería
authors: R
authors: Hermosilla
authors: Doris
authors: D
authors: Orphanópoulos
authors: Jorge
authors: J
authors: Villanueva
authors: Elizabeth
authors: E
authors: Wettig
authors: Ximena
authors: X
authors: Barraza
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002677:Chile; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction