title: 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
abstract: We report on a female patient with a de novo interstitial deletion of chromosome region 2q23.1-23.3 identified by array-CGH. She had significant global delay with developmental regression at age 6 years. She developed seizures at age 3 years with progressive difficulties with balance, loss of fine motor skills and aggressive behavior. She had short stature, microcephaly, and distinct facial features. Her speech was dysarthric, and she demonstrated repetitive hand movements. In this article, we compare the clinical features of our patient with previously reported cases with a 2q23.1 deletion.
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Brian H Y
authors.initials: BH
authors.lastname: Chung
authors.forename: James
authors.initials: J
authors.lastname: Stavropoulos
authors.forename: Christian R
authors.initials: CR
authors.lastname: Marshall
authors.forename: Rosanna
authors.initials: R
authors.lastname: Weksberg
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Grace
authors.initials: G
authors.lastname: Yoon
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008831:Microcephaly / Q000235:genetics / Q000473:pathology*
chemical_list: D004268:DNA-Binding Proteins; C550332:MBD5 protein, human