title: Clinical characteristics of a sample of patients with cat eye syndrome.
abstract: OBJECTIVE
  Cat eye syndrome is considered a rare chromosome disease with a highly variable phenotype. The objective of this paper was to describe the clinical characteristics of a sample of patients with cat eye syndrome who were seen at our service.
  
  
  METHODS
  This is a retrospective analysis of a sample of six patients with diagnoses of cat eye syndrome. All of these patients’ karyotypes exhibited the presence of an additional marker chromosome, inv dup(22)(pter->q11.2::q11.2->pter). One patient also exhibited mosaicism with a lineage that had a normal chromosomal constitution. Clinical and follow-up data were collected from the patients’ medical records. Fisher’s exact test was used to compare the frequencies observed in our study with figures given in the literature (P<0.05).
  
  
  RESULTS
  The main abnormalities observed were preauricular tags and/or pits and anal atresia (both observed in 83% of cases). Coloboma of the iris, an important finding with this syndrome, was observed in two cases (33%). Congenital heart disease was detected in four patients (67%) and the main defect found was interatrial communication (75%). Uncommon findings included hemifacial microsomia combined with unilateral microtia and biliary atresia. Just one of these patients died, from chylothorax and sepsis.
  
  
  CONCLUSIONS
  The phenotype observed in cat eye syndrome is highly variable and may be superimposed on the phenotype of the oculo-auriculo-vertebral spectrum. Although these patients usually have good prognosis, including from a neurological point of view, we believe that all patients with the syndrome should be assessed very early on for the presence of cardiac, biliary and anorectal malformations, which may avoid possible complications in the future, including patient deaths.
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre and Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Rafael Fabiano Machado
authors.initials: RF
authors.lastname: Rosa
authors.forename: Rômulo
authors.initials: R
authors.lastname: Mombach
authors.forename: Paulo Ricardo Gazzola
authors.initials: PR
authors.lastname: Zen
authors.forename: Carla
authors.initials: C
authors.lastname: Graziadio
authors.forename: Giorgio Adriano
authors.initials: GA
authors.lastname: Paskulin
mesh_terms: D000782:Aneuploidy; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012189:Retrospective Studies