Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris. Issue 3 (20th December 2013) - Al‐Maawali, Almundher
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. © 2013 Wiley Periodicals, Inc.