title: [Accidental finding of a cri du chat syndrome in an adult patient by means of array-CGH].
abstract: BACKGROUND
  The cri du chat syndrome (CDCS) come from a partial or total deletion of the short arm of chromosome 5, being one of the most common deletion syndromes in human beings. The great majority of patients are diagnosed between the first month and first year of life, but herein we report a finding of a CDCS in a woman with a suspect of spinocerebellar ataxia, and a family medical record of ataxia and bipolar disorder. We pay special attention to the clinical features as well as the diagnostics tests, used to identify the CDCS.
  
  
  METHODS
  We report a case of a 46 years-old woman showing a borderline intelligence and bilateral cataract surgery at the age of 43. Beginning of symptoms in childhood included hypoacusia, ataxia, dysarthria, dysphagia, depression, cognitive impairment and bipolar disorder. Physical examination showed microcephaly, micrognathia, talipes equinovarus and ataxia. Karyotype and array-CGH were carried out on peripheral blood. The patient showed a rearrangement involving chromosomes 5 and 15, as well as an inversion of chromosome 9: 45,XX,inv9(p11q13);t(5,15)(p15.33;q11.2). Array comparative genomic hybridization was performed showing a 2.91 Mb deletion at 5p15.33, genomic formula arr 5p15.33 (151537-3057771)x1. The deletion involved 20 genes, including TERT gene.
  
  
  CONCLUSIONS
  The multiple gene deletions confirmed the CDCS diagnosis, being responsible for the patient phenotype. It has been showed up the importance of using the correct diagnosis techniques (array-CGH, peripheral blood karyotype) as well as their appropriate choice.
authors.forename: Raquel
authors.initials: R
authors.lastname: Ferreirós-Martínez
authors.forename: Lydia
authors.initials: L
authors.lastname: López-Manzanares
authors.affiliation: Hospital Universitario de la Princesa, 28006 Madrid, Espana.
authors.forename: Concepción
authors.initials: C
authors.lastname: Alonso-Cerezo
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001714:Bipolar Disorder / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000473:pathology; D002386:Cataract / Q000235:genetics; D002524:Cerebellar Ataxia / Q000235:genetics; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000648:ultrastructure; D003072:Cognition Disorders / Q000235:genetics; D055028:Comparative Genomic Hybridization; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D057210:Delayed Diagnosis; D004401:Dysarthria / Q000235:genetics; D005192:Family Health; D005260:Female; D034381:Hearing Loss / Q000235:genetics; D006801:Humans; D033162:Incidental Findings; D008297:Male; D008875:Middle Aged; D010641:Phenotype