title: Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.
abstract: BACKGROUND
  Genetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies such as high resolution microarray analysis has allowed the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to an increase in the diagnosis of these patients of up to 25 %.
  
  
  METHODS
  We report the first case of an 8-year-old Colombian girl of mixed race ancestry (Mestizo), with clinical features that include: delayed psychomotor and language development, intellectual disability, upward slanting palpebral fissures, divergent strabismus, low-set and rotated ears, tall and broad nasal bridge, flat philtrum, bifid uvula, posterior cleft palate, increased anteroposterior diameter of her chest, congenital heart defect type interventricular communication, scoliosis, and umbilical hernia. Genetic analysis was performed using comparative genomic hybridization array, which evidenced the deletion of a region of approximately 3.608 Mb on chromosome 21q22.3, and a duplication of 12.326 Mb on chromosome 7q35q36.3, these alterations affect approximately 112 and 186 genes, respectively.
  
  
  CONCLUSIONS
  To date, this is the first report of an associated terminal deletion of 21q and 7q duplication in a patient with delayed psychomotor development and intellectual disability. We consider that future implementation of exome and RNA sequencing techniques, and analysis of their proteomic expression in a clinical context could lead to better analysis and interpretation of the genotype-phenotype correlation in cases similar to that described.
authors.affiliation: Faculty of Health, Universidad Icesi, Research Centre on Congenital Anomalies and Rare Diseases (CIACER), Calle 18 No. 122-135, bloque L, Oficina: 5025A Pance, Cali, Colombia.
authors.forename: Felipe
authors.initials: F
authors.lastname: Ruiz-Botero
authors.affiliation: Faculty of Health, Universidad Icesi, Research Centre on Congenital Anomalies and Rare Diseases (CIACER), Calle 18 No. 122-135, bloque L, Oficina: 5025A Pance, Cali, Colombia. hmpachajoa@icesi.edu.co.
authors.forename: Harry
authors.initials: H
authors.lastname: Pachajoa
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003105:Colombia; D055028:Comparative Genomic Hybridization / Q000379:methods; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D046228:Microarray Analysis / Q000379:methods; D040901:Proteomics / Q000379:methods; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*
keywords: 21q deletion; 7q duplication; Comparative genomic hybridization; Intellectual disability