title: Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability.
abstract: Whole-genome microarray analysis is proven to be useful in the identification of submicroscopic copy number imbalances in families with intellectual disabilities. The first case of Xq25 duplication was identified using genome-wide array comparative genomic hybridization (array-CGH) in a 24-year-old patient with a syndromic intellectual disability. We report a 4-year-old boy with a de novo 591 kb duplication at Xq25. The duplication was first detected by a CytoScan HD array platform (Affymetrix, USA) and was confirmed by real-time quantitative PCR (qPCR) of the STAG2 gene, and by fluorescence in situ hybridization (FISH). The patient had clinical features partially consistent with published cases, including an intellectual disability and speech delay. The identification of this additional patient and a detailed analysis of duplications identified in other patient cohorts and absent in normal individuals support the existence of a rare pathological microduplication at Xq25 that encompasses STAG2.
authors.affiliation: Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China; Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, 510080, China.
authors.forename: Xie
authors.initials: X
authors.lastname: Yingjun
authors.affiliation: Department of Pediatric Intensive Care Unit, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China. Electronic address: tangwenr@21cn.com.
authors.forename: Tang
authors.initials: T
authors.lastname: Wen
authors.affiliation: Department of Pediatric Intensive Care Unit, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.
authors.forename: Liang
authors.initials: L
authors.lastname: Yujian
authors.affiliation: Department of Pediatric Intensive Care Unit, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Lingling
authors.affiliation: Department of Pediatric Intensive Care Unit, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.
authors.forename: Huang
authors.initials: H
authors.lastname: Huimin
authors.affiliation: Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Qun
authors.affiliation: Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Junhong
mesh_terms: D034961:Antigens, Nuclear / Q000235:genetics*; D018797:Cell Cycle Proteins; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012729:Sex Chromosome Aberrations; D014314:Trisomy / Q000235:genetics*; D000097722:Cohesins
chemical_list: D034961:Antigens, Nuclear; D018797:Cell Cycle Proteins; C508565:STAG2 protein, human; D000097722:Cohesins
keywords: Genome-wide array analysis; Intellectual disability; Microduplication; STAG2; XIAP