title: [Analysis of a infertile female with ring 21 chromosome using combined techniques].
abstract: OBJECTIVE
  To investigate clinical phenotype and genetic characteristics of a 30-year-old infertile female carrying a mosaic ring 21 chromosome.
  
  
  METHODS
  A combination of techniques including G-banding, C-banding, fluorescence in situ hybridization (FISH) and SNP array were performed to investigate the breaking point of the r(21).
  
  
  RESULTS
  The karyotype of the patient was mos 46,XX,r(21)[166]/46, XX,der(21)[60]/45, XX, -21[20]/46, XX,dic r(21)[4].ish del(21)(q22.2?)(21qter-, AML1+, D21S259/D21S341/D21S342+). arr 21q22.3(43 457 934-48 093 361) × 1, 21q22.2q22.3(40 218 429-43 457 934)× 1-2. The karyotypes of her parents were both normal.
  
  
  CONCLUSIONS
  Clinical phenotypes of patients carrying a ring 21 mainly depends on the percentage of abnormal cells and the deleted chromosomal fragment. The small uterus and oligomenorrhea in our patient may be attributed to the mosaic ring 21 chromosome.
authors.affiliation: Central Laboratory, Hangzhou First People's Hospital, Hangzhou, Zhejiang 310006, P. R. China. moc2009@live.cn.
authors.forename: Hao
authors.initials: H
authors.lastname: Wang
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.forename: Lingfeng
authors.initials: L
authors.lastname: Wu
authors.forename: Lesi
authors.initials: L
authors.lastname: Xie
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007247:Infertility, Female / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D012303:Ring Chromosomes