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Author Al-Maawali, Almundher ♦ Marshall, Christian R. ♦ Scherer, Stephen W. ♦ Dupuis, Lucie ♦ Mendoza-Londono, Roberto ♦ Stavropoulos, Dimitri J.
Source World Health Organization (WHO)-Global Index Medicus
Content type Text
Publisher Wiley-Blackwell
File Format HTM / HTML
Language English
Difficulty Level Medium
Subject Domain (in DDC) Natural sciences & mathematics ♦ Life sciences; biology ♦ Physiology & related subjects ♦ Biochemistry ♦ Genetics and evolution ♦ Natural history of organisms ♦ Technology ♦ Medicine & health ♦ Human anatomy, cytology, histology ♦ Human physiology ♦ Diseases ♦ Manufacture for specific uses ♦ Precision instruments & other devices
Subject Domain (in MeSH) Body Regions ♦ Cells ♦ Anatomy ♦ Eukaryota ♦ Organisms ♦ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ♦ Pathological Conditions, Signs and Symptoms ♦ Diseases ♦ Diagnosis ♦ Investigative Techniques ♦ Analytical, Diagnostic and Therapeutic Techniques and Equipment ♦ Genetic Phenomena ♦ Biological Sciences ♦ Persons ♦ Persons
Subject Keyword Discipline Human ♦ Discipline Genetics ♦ Abnormalities, Multiple ♦ Diagnosis ♦ Genetics ♦ Chromosome Deletion ♦ Chromosomes, Human, Pair 12 ♦ Darier Disease ♦ Eyebrows ♦ Abnormalities ♦ Genetic Association Studies ♦ Chromosome Banding ♦ Comparative Genomic Hybridization ♦ Facies ♦ Humans ♦ Infant ♦ Male ♦ Phenotype ♦ Case Reports ♦ Journal Article ♦ Research Support, Non-u.s. Gov't
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.
Description Country affiliation: Canada
Author Affiliation: Al-Maawali A ( Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.)
ISSN 15524825
Educational Role Student ♦ Teacher
Age Range above 22 year
Educational Use Reading ♦ Research ♦ Self Learning
Interactivity Type Expositive
Education Level UG and PG
Learning Resource Type Article ♦ Case study
Publisher Date 2014-03-01
Publisher Place United States
e-ISSN 15524833
Journal American Journal of Medical Genetics Part A
Volume Number 164A
Issue Number 3


Source: WHO-Global Index Medicus