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)

Abstract

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
Volume164
Issue number3
DOIs
Publication statusPublished - 2014

Fingerprint

Chromosome Deletion
Gene Deletion
Microarray Analysis
Genes
Single Nucleotide Polymorphism
Burnett Schwartz Berberian syndrome

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris. / Al-Maawali, Almundher; Marshall, Christian R.; Scherer, Stephen W.; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 3, 2014, p. 796-800.

Research output: Contribution to journalArticle

Al-Maawali, Almundher ; Marshall, Christian R. ; Scherer, Stephen W. ; Dupuis, Lucie ; Mendoza-Londono, Roberto ; Stavropoulos, Dimitri J. / Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris. In: American Journal of Medical Genetics, Part A. 2014 ; Vol. 164, No. 3. pp. 796-800.
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