title: A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies.
abstract: We report on a 14-year-old girl with mild cognitive impairment, deafness, and an unusual pattern of anomalies associated with a previously unreported de novo duplication of chromosome 17q21.33. The 1.1 Mb duplication was detected by Affymetrix 100K GeneChip array genome hybridization and involves the genomic region between 45,093,544 and 46,196,038 base pairs on chromosome 17 (NCBI build 36.1). The patient has microcephaly, unusual cup-shaped ears, scoliosis and other skeletal defects. Two genes involved in the duplicated region, PPP1R9B and COL1A1, are strong candidates for producing her phenotype.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Children's and Women's Hospital, Vancouver, British Columbia, Canada. farahz@interchange.ubc.ca
authors.forename: Farah R
authors.initials: FR
authors.lastname: Zahir
authors.forename: Sylvie
authors.initials: S
authors.lastname: Langlois
authors.forename: Kim
authors.initials: K
authors.lastname: Gall
authors.forename: Patrice
authors.initials: P
authors.lastname: Eydoux
authors.forename: Marco A
authors.initials: MA
authors.lastname: Marra
authors.forename: Jan M
authors.initials: JM
authors.lastname: Friedman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D022202:Chromosomes, Artificial, Bacterial; D002886:Chromosomes, Human, Pair 17; D003072:Cognition Disorders / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype