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Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.
. 2014 Mar; 164A(3):796-800.

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+Show Affiliations

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24375972

Citation

Al-Maawali, Almundher, et al. "Clinical Characteristics in Patients With Interstitial Deletions of Chromosome Region 12q21-q22 and Identification of a Critical Region Associated With Keratosis Pilaris." American Journal of Medical Genetics. Part A, vol. 164A, no. 3, 2014, pp. 796-800.
Al-Maawali A, Marshall CR, Scherer SW, et al. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris. Am J Med Genet A. 2014;164A(3):796-800.
Al-Maawali, A., Marshall, C. R., Scherer, S. W., Dupuis, L., Mendoza-Londono, R., & Stavropoulos, D. J. (2014). Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris. American Journal of Medical Genetics. Part A, 164A(3), 796-800. https://doi.org/10.1002/ajmg.a.36356
Al-Maawali A, et al. Clinical Characteristics in Patients With Interstitial Deletions of Chromosome Region 12q21-q22 and Identification of a Critical Region Associated With Keratosis Pilaris. Am J Med Genet A. 2014;164A(3):796-800. PubMed PMID: 24375972.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris. AU - Al-Maawali,Almundher, AU - Marshall,Christian R, AU - Scherer,Stephen W, AU - Dupuis,Lucie, AU - Mendoza-Londono,Roberto, AU - Stavropoulos,Dimitri J, Y1 - 2013/12/20/ PY - 2013/01/05/received PY - 2013/10/07/accepted PY - 2013/12/31/entrez PY - 2014/1/1/pubmed PY - 2014/11/5/medline KW - 12q deletion KW - CGH-array KW - facial dysmorphism, keratosis pilaris KW - intellectual disability SP - 796 EP - 800 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 164A IS - 3 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/24375972/Clinical_characteristics_in_patients_with_interstitial_deletions_of_chromosome_region_12q21_q22_and_identification_of_a_critical_region_associated_with_keratosis_pilaris_ L2 - https://doi.org/10.1002/ajmg.a.36356 DB - PRIME DP - Unbound Medicine ER -