title: Chromosomal abnormalities in patients with congenital heart disease.
abstract: BACKGROUND
  Chromosomal abnormalities (CAs) are an important cause of congenital heart disease (CHD).
  
  
  OBJECTIVE
  Determine the frequency, types and clinical characteristics of CAs identified in a sample of prospective and consecutive patients with CHD.
  
  
  METHODS
  Our sample consisted of patients with CHD evaluated during their first hospitalization in a cardiac intensive care unit of a pediatric referral hospital in Southern Brazil. All patients underwent clinical and cytogenetic assessment through high-resolution karyotype. CHDs were classified according to Botto et al. Chi-square, Fisher exact test and odds ratio were used in the statistical analysis (p < 0.05).
  
  
  RESULTS
  Our sample consisted of 298 patients, 53.4% males, with age ranging from 1 day to 14 years. CAs were observed in 50 patients (16.8%), and 49 of them were syndromic. As for the CAs, 44 (88%) were numeric (40 patients with +21, 2 with +18, 1 with triple X and one with 45,X) and 6 (12%) structural [2 patients with der(14,21), +21, 1 with i(21q), 1 with dup(17p), 1 with del(6p) and 1 with add(18p)]. The group of CHDs more often associated with CAs was atrioventricular septal defect.
  
  
  CONCLUSIONS
  CAs detected through karyotyping are frequent in patients with CHD. Thus, professionals, especially those working in Pediatric Cardiology Services, must be aware of the implications that performing the karyotype can bring to the diagnosis, treatment and prognosis and for genetic counseling of patients and families.
authors.forename: Patrícia
authors.initials: P
authors.lastname: Trevisan
authors.forename: Tatiana Diehl
authors.initials: TD
authors.lastname: Zen
authors.forename: Rafael Fabiano Machado
authors.initials: RF
authors.lastname: Rosa
authors.forename: Juliane Nascimento da
authors.initials: JN
authors.lastname: Silva
authors.forename: Dayane Bohn
authors.initials: DB
authors.lastname: Koshiyama
authors.forename: Giorgio Adriano
authors.initials: GA
authors.lastname: Paskulin
authors.forename: Paulo Ricardo Gazzola
authors.initials: PR
authors.lastname: Zen
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D059785:Karyotype; D008297:Male; D008677:Metaphase / Q000235:genetics; D011446:Prospective Studies