title: 47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.
abstract: OBJECTIVE
  To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype.
  
  
  METHODS
  Case report.
  
  
  METHODS
  División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social.
  
  
  METHODS
  The 24-year-old patient presented a phenotypic combination of Turner syndrome and X polysomy. She showed wide and short neck, low posterior hairline, cubitus valgus, bilateral shortening of the fourth and fifth metacarpals, multiple nevi, and müllerian anomalies but had spontaneous pubarche, thelarche, and menarche.
  
  
  METHODS
  Laboratory evaluations, imaging studies, ovarian biopsy, G-banding karyotype, and in situ fluorescence hybridization.
  
  
  METHODS
  Clinical and laboratory findings.
  
  
  RESULTS
  A karyotype: mos 47,XXX/45X/46,XX was found in the cytogenetic studies, a bicornuate uterus in the ultrasonographic scan, and a normal ovarian profile in the laboratory tests.
  
  
  CONCLUSIONS
  The infertility in the present case can be related to either bicornuate uterus or subclinical abortions due to aneuploid ova. Cytogenetic assessment provides important information regarding infertile patients with uterine factors and short stature.
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, and Doctorado en Genética Humana, Instituto de Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, México.
authors.forename: Aniel Jessica Leticia
authors.initials: AJ
authors.lastname: Brambila-Tapia
authors.forename: Horacio
authors.initials: H
authors.lastname: Rivera
authors.forename: Herbert
authors.initials: H
authors.lastname: García-Castillo
authors.forename: Maria Guadalupe
authors.initials: MG
authors.lastname: Domínguez-Quezada
authors.forename: Ingrid Patricia
authors.initials: IP
authors.lastname: Dávalos-Rodríguez
mesh_terms: D041321:Chromosomes, Human, X; D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007247:Infertility, Female / Q000175:diagnosis / Q000235:genetics; D009030:Mosaicism; D010641:Phenotype; D011627:Puberty / Q000235:genetics / Q000502:physiology*; D012729:Sex Chromosome Aberrations; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult