title: Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.
abstract: We report on a male patient with a submicroscopic 1.21 Mb de novo deletion at 12q21.33-q22 with global developmental delay, characteristic facial features, and keratosis pilaris. Thus far, five other cases with a 12q de novo deletion including this segment have been reported; our case represents the smallest de novo deletion within this chromosome region. High resolution SNP microarray analysis showed a deletion of RefSeq genes BTG1 and LOC256021, and partial deletion of DCN. We propose that BTG1 is a critical gene for the development of the distinctive keratosis pilaris observed in patients with interstitial deletion of 12q21-q22, and suggest candidate genes that may contribute to dysmorphic features and global developmental delay.
authors.affiliation: Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Almundher
authors.initials: A
authors.lastname: Al-Maawali
authors.forename: Christian R
authors.initials: CR
authors.lastname: Marshall
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Lucie
authors.initials: L
authors.lastname: Dupuis
authors.forename: Roberto
authors.initials: R
authors.lastname: Mendoza-Londono
authors.forename: Dimitri J
authors.initials: DJ
authors.lastname: Stavropoulos
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D055028:Comparative Genomic Hybridization; D007644:Darier Disease / Q000175:diagnosis* / Q000235:genetics*; D005138:Eyebrows / Q000002:abnormalities*; D019066:Facies; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype
keywords: 12q deletion; CGH-array; facial dysmorphism, keratosis pilaris; intellectual disability