title: A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype.
abstract: We report a Japanese woman with 46,XX,dup(16)(p13.11p13.3), who closely resembled the phenotype of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X, MIM # 301040). Although she never had alpha-thalassemia, she showed characteristic clinical features including severe mental retardation, characteristic facies and behavior. ATR-X is caused by mutations of the ATRX gene. Although the function of ATRX protein has remained unclarified, it is thought to be involved in the regulation of several genes. The only target gene identified so far is the alpha-globin gene at 16p13.3. Clinical similarity among patients with ATR-X and dup(16)(p13.11p13) may indicate that some target genes regulated by ATRX reside in the duplicated region between 16p13.11 and 16p13.3, and that these genes are abnormally upregulated in ATR-X differently from the alpha-globin gene.
authors.affiliation: Department of Medical Genetics, Tokyo Children's Rehabilitation Hospital, Japan. fwkt4124@mb.infoweb.ne.jp
authors.forename: Keiko
authors.initials: K
authors.lastname: Akahoshi
authors.forename: Hirohumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Yukio
authors.initials: Y
authors.lastname: Hattori
authors.forename: Shinji
authors.initials: S
authors.lastname: Saitoh
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Takahito
authors.initials: T
authors.lastname: Wada
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D010641:Phenotype; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology