Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris

Almundher Al-Maawali, Christian R. Marshall, Stephen W. Scherer, Lucie Dupuis, Roberto Mendoza-Londono, Dimitri J. Stavropoulos

Research output: Contribution to journalArticle

5 Citations (Scopus)


We report on a male patient with a submicroscopic 1.21Mb 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.

Original languageEnglish
Pages (from-to)796-800
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number3
Publication statusPublished - 2014



  • 12q deletion
  • CGH-array
  • Facial dysmorphism, keratosis pilaris
  • Intellectual disability

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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