title: Parental origin and mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)/45,X karyotype in a woman with mild Turner syndrome.
abstract: OBJECTIVE
  To describe the parental origin and the mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)[23]/45,X[8] karyotype in a patient with mild Turner syndrome.
  
  
  METHODS
  Case report.
  
  
  METHODS
  A university hospital.
  
  
  METHODS
  A 23-year-old woman with normal height, gonadal dysgenesis, and mild Turner stigmata.
  
  
  METHODS
  Genotype-phenotype correlation, array-based copy number analysis, fluorescence in situ hybridization with locus-specific probes, and microsatellite marker-mediated haplotype analysis subsequent to whole genome amplification of microdissected chromosomes.
  
  
  METHODS
  Genotype-phenotype correlation, mechanism of formation, and parental origin.
  
  
  RESULTS
  Formation in paternal meiosis by refolding in itself and unequal recombination between Xp and Xq were found as the most likely mechanism of formation.
  
  
  CONCLUSIONS
  Formation of der(X) chromosomes in females can be more complex than previously thought. The nearly normal height of this patient could be explained by a combination of trisomy of the Xp-located SHOX gene and mosaicism with a 45,X cell line.
authors.affiliation: MCL Medical Laboratories, Bern, Switzerland.
authors.forename: Franz
authors.initials: F
authors.lastname: Binkert
authors.forename: Ana
authors.initials: A
authors.lastname: Spreiz
authors.forename: Martina
authors.initials: M
authors.lastname: Höckner
authors.forename: Peter
authors.initials: P
authors.lastname: Miny
authors.forename: Brigitte
authors.initials: B
authors.lastname: von Dach Leu
authors.forename: Martin
authors.initials: M
authors.lastname: Erdel
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
authors.forename: Gerd
authors.initials: G
authors.lastname: Utermann
authors.forename: Dieter
authors.initials: D
authors.lastname: Kotzot
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D008297:Male; D010290:Parents; D011247:Pregnancy; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult