title: [Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay].
abstract: BACKGROUND
  The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system.
  
  
  METHODS
  We report a 10 years-old girl with developmental delay, behavior problems and dysmorphic features of this new syndrome with developmental delay. She had a 12p12 deletion involving SOX5.
  
  
  CONCLUSIONS
  We review the reported cases, intragenic SOX5 deletions and larger 12p12 deletions encompassing SOX5. We analyze the genotype-phenotype associations and the genes involved in our patient.
authors.affiliation: Hospital San Pedro de Alcantara, 10003 Caceres, Espana.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Arroyo-Carrera
authors.forename: M Solo
authors.initials: MS
authors.lastname: de Zaldívar-Tristancho
authors.forename: Rebeca
authors.initials: R
authors.lastname: Martín-Fernández
authors.forename: Raquel
authors.initials: R
authors.lastname: Hernández-Martín
authors.forename: Amparo
authors.initials: A
authors.lastname: López-Lafuente
authors.forename: Laia
authors.initials: L
authors.lastname: Rodríguez-Revenga
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002503:Centromere / Q000648:ultrastructure; D002648:Child; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics / Q000648:ultrastructure*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007438:Introns / Q000235:genetics; D008831:Microcephaly / Q000235:genetics; D065886:Neurodevelopmental Disorders / Q000235:genetics*; D010641:Phenotype; D055755:SOXD Transcription Factors / Q000172:deficiency / Q000235:genetics*; D016728:Self-Injurious Behavior / Q000235:genetics; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: D055755:SOXD Transcription Factors