title: Unusual pseudo dicentric, psu dic (1;19)(q10;q13.42), in a female with premature ovarian failure.
abstract: OBJECTIVE
  To provide a hypothesis regarding the cause of premature ovarian failure (POF) observed in a 27-year-old with a mosaic dicentric chromosome.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Cytogenetics/molecular cytogenetics laboratory in a university hospital.
  
  
  METHODS
  A 27-year-old female with POF.
  
  
  METHODS
  Karyotype and fluorescence in situ hybridization.
  
  
  METHODS
  Metaphases were studied by standard G- and C-banding methods; fluorescence in situ hybridization method was used to characterize the abnormality.
  
  
  RESULTS
  Chromosome analysis detected a mosaic dicentric chromosome, psu dic (1;19)(q10;q13.42), in about 10% of metaphases from the cultured peripheral blood lymphocytes. The remaining 90% of metaphases showed normal karyotype. A repeat analysis showed the same results. Chromosome analysis from cultured skin fibroblasts showed only normal karyotype.
  
  
  CONCLUSIONS
  We propose two hypotheses to explain the POF seen in our patient: [1] Dicentric chromosomes, as seen in our patient, are known to cause segregation errors resulting in the breakdown/arrest of meiosis. Such a breakdown/arrest of meiosis could lead to oligomenorrhea seen in our patient. [2] The recently identified gene MATER, which is mapped at 19q13.4, could be the causative gene. MATER is a maternal effect gene that is required for early embryonic development. The gene and its protein serve as an autoantigen in a mouse model of autoimmune POF that is strikingly similar to human POF.
authors.affiliation: Department of Pathology, University of Texas Medical Branch, Galveston, Texas 77555-0359, USA.
authors.forename: Jill
authors.initials: J
authors.lastname: Northup
authors.forename: Kathleen
authors.initials: K
authors.lastname: Griffis
authors.forename: Judy
authors.initials: J
authors.lastname: Hawkins
authors.forename: Lillian
authors.initials: L
authors.lastname: Lockhart
authors.forename: Gopalrao
authors.initials: G
authors.lastname: Velagaleti
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D016649:Primary Ovarian Insufficiency / Q000235:genetics*