Author/Authors :
Saberi, Alihossein Narges Genetic Lab, ايران , Saberi, Alihossein ahvaz jundishapur university of medical sciences - Faculty of Medicine - Department of Medical Genetics, اهواز, ايران , Shariati, Gholamreza ahvaz jundishapur university of medical sciences - Faculty of Medicine - Department of Medical Genetics, اهواز, ايران , Shariati, Gholamreza Narges Genetic Lab, ايران , Hamid, Mohammad Narges Genetic Lab, ايران , Hamid, Mohammad Pasteur institute of Iran - Research Center - Department of molecular Medicine, Biotechnology section, ايران , Galehdari, Hamid Narges Genetic Lab, ايران , Galehdari, Hamid shahid chamran university of ahvaz - Faculty of Sciences - Department of Genetics, اهواز, ايران , Abdorasouli, Nehzat Narges Genetic Lab, ايران
Abstract :
Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include spe- cific craniofacial malformations, delayed growth and development, intellectual disability and seizures. Here, we report a case of WHS: a 27-month-old girl with a microdeletion at distal part of short arm of chromosome 4. She had striking clinical features of WHS and had an apparently normal karyotype. Array comparative genomic hybridization performed on the DNA extracted from peripheral blood revealed loss of 1.7Mb at 4q16.3-q15.3. Taken together, this data suggests that a patient with strong clinical suspicion of chromosome abnormality and normal conventional karyotype analysis should be further evaluated by molecular cytogenetic techniques such as array comparative genomic hybridization (aCGH) or luorescence in situ hybridization (FISH).
Keywords :
array CGH , wolf , Hirschhorn syndrome , 4p16.3 deletion
