title: A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism.
abstract: We report an 11year-old female with 7q11.23 microduplication detected by an array-CGH test performed because of her atypical facial appearance while being followed-up with diagnoses of epilepsy and cerebral palsy at the pediatric neurology department since she was 3 months old. We emphasize that the facial phenotype by itself should arise suspicion of the 7q11.23 duplication.
authors.affiliation: Department of Pediatric Neurology, Ankara Children's Health and Diseases, Hematology-Oncology Hospital, Ankara, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Değerliyurt
authors.forename: S
authors.initials: S
authors.lastname: Ceylaner
authors.forename: H
authors.initials: H
authors.lastname: Ozdağ
mesh_terms: D002547:Cerebral Palsy / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D020440:Gene Duplication / Q000235:genetics*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D018980:Williams Syndrome / Q000235:genetics*