title: A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation.
abstract: We present array comparative genomic hybridization (aCGH) characterization of a novel Xq21.1-25 duplication in a 2-year-old girl with facial dysmorphism, mental retardation and short stature. Analysis of aCGH results revealed a 47,232kb duplication region that harbored 231 RefSeq genes, including 32 OMIM genes. Ten genes (i.e., ZNF711, SRPX2, RAB40AL, MID2, ACSL4, PAK3, UBE2A, UPF3B, CUL4B, and GRIA3) in the duplication interval have been associated with mental retardation. We discuss the genotype-phenotype correlation in this case. Our case provides evidence for an association of mental retardation with X chromosome duplication.
authors.affiliation: MOE - Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, PR China; Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.
authors.forename: Zhijuan
authors.initials: Z
authors.lastname: Jin
authors.affiliation: Institutes of Biomedical Sciences, Fudan University, Shanghai 200433, PR China.
authors.forename: Li
authors.initials: L
authors.lastname: Yu
authors.affiliation: Institutes of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.
authors.forename: Juan
authors.initials: J
authors.lastname: Geng
authors.affiliation: Institutes of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.
authors.forename: Xingming
authors.initials: X
authors.lastname: Jin
authors.affiliation: MOE - Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, PR China. Electronic address: huanghong@smhb.gov.cn.
authors.forename: Hong
authors.initials: H
authors.lastname: Huang
mesh_terms: D002675:Child, Preschool; D058674:Chromosome Duplication; D041321:Chromosomes, Human, X; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D016133:Polymerase Chain Reaction
keywords: Array CGH; Duplication; Mental retardation; Xq21.1–25