title: Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH).
abstract: Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific 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 1.7 Mb 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 fluorescence in situ hybridization (FISH).
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapour university of Medical Sciences, Ahvaz, Iran Narges Genetic Lab, Ahvaz, Iran. ahsaberi70@hotmail.com.
authors.forename: Alihossein
authors.initials: A
authors.lastname: Saberi
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapour university of Medical Sciences, Ahvaz, Iran Narges Genetic Lab, Ahvaz, Iran.
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Shariati
authors.affiliation: Narges Genetic Lab, Ahvaz, Iran Department of molecular Medicine, Biotechnology section, Research Center, Pasteur institute of Iran, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Hamid
authors.affiliation: Narges Genetic Lab, Ahvaz, Iran Department of Genetics, Faculty of Sciences, Shahid Chamran university, Ahvaz, Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Galehdari
authors.affiliation: Narges Genetic Lab, Ahvaz, Iran.
authors.forename: Nehzat
authors.initials: N
authors.lastname: Abdorasouli
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D006801:Humans; D059785:Karyotype; D007621:Karyotyping; D054877:Wolf-Hirschhorn Syndrome / Q000175:diagnosis / Q000235:genetics*