title: Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.
abstract: In a man with severe mental retardation, minor facial and genital anomalies, disproportionate short stature and a broad thorax, we identified a de novo Xq13.2q21.1 duplication by array CGH. This 7 Mb duplication encompasses 23 known genes, including the X-linked mental retardation (XLMR) genes ATRX and SLC16A2. The phenotype of this patient is similar to that described in more than 10 previously reported patients with overlapping Xq duplications. Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Dorien
authors.initials: D
authors.lastname: Lugtenberg
authors.forename: Arjan P M
authors.initials: AP
authors.lastname: de Brouwer
authors.forename: Astrid R
authors.initials: AR
authors.lastname: Oudakker
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.forename: Ben C J
authors.initials: BC
authors.lastname: Hamel
authors.forename: Hans
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: Ernie M H F
authors.initials: EM
authors.lastname: Bongers
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D001483:Base Sequence; D041321:Chromosomes, Human, X / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D018628:Gene Dosage; D020440:Gene Duplication; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D000075924:X-linked Nuclear Protein
chemical_list: D017931:DNA Primers; D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein