title: Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease.
abstract: BACKGROUND
  The objective of the study was to describe a novel Xp13.2 chromosome microduplication in a child with some features of Turner syndrome but with menorrhagia after normal menarche. We used clinical evaluation and high resolution chromosome (microarray) analysis.
  
  
  METHODS
  A 15-year-old girl with typical (short stature, pulmonic stenosis, widely-spaced nipples) and atypical (Madelung deformity, menorrhagia) manifestations of Turner syndrome had a novel chromosome constitution with extra material (microduplication) at band Xq13.2 that contained the X-inactive-specific-transcript locus. She also had connective tissue laxity, suggestive of vessel fragility as a contributor to her menorrhagia as well as her diagnosis of von Willebrand disease. This first case of selective X-inactive-specific-transcript locus duplication suggests a role for gene repression in Turner syndrome and other disorders that affect ovarian function.
  
  
  CONCLUSIONS
  High-resolution chromosome (microarray) analysis, now a standard of care, will provide new insights into adolescents with abnormal growth and reproductive tract symptoms, especially when accompanied by congenital anomalies.
authors.affiliation: Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, Texas. Electronic address: marcela.nur@ttuhsc.edu.
authors.forename: Marcela M
authors.initials: MM
authors.lastname: Nur
authors.affiliation: Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, Texas.
authors.forename: Merick
authors.initials: M
authors.lastname: Yamada
authors.affiliation: Department of Pediatrics, Texas Tech University Health Sciences Center, El Paso, Texas.
authors.forename: Vijay
authors.initials: V
authors.lastname: Tonk
authors.affiliation: Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, Texas.
authors.forename: Golder N
authors.initials: GN
authors.lastname: Wilson
mesh_terms: D000293:Adolescent; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000235:genetics*; D018398:Homeodomain Proteins; D006801:Humans; D008595:Menorrhagia / Q000235:genetics; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D014314:Trisomy / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics; D049951:X Chromosome Inactivation / Q000235:genetics*; D014842:von Willebrand Diseases / Q000150:complications / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins
keywords: Connective tissue dysplasia; Madelung deformity; Menorrhagia; Pulmonic stenosis; Short stature; Turner syndrome; X chromosome aberrations; XIST gene; von Willebrand disease