Fertility and Sterility
Volume 94, Issue 3 , Pages 1097.e5-1097.e8 , August 2010

Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure

  • Veronica Bertini, Ph.D.

      Affiliations

    • Cytogenetics and Molecular Genetics Unit, Children's Department, A.O.U. Pisana, S. Chiara Hospital, Pisa, Italy
    • ,
  • Paolo Ghirri, M.D.

      Affiliations

    • Neonatology Unit, Children's Department, A.O.U. Pisana, S. Chiara Hospital, Pisa, Italy
    • ,
  • Maria Patrizia Bicocchi, Ph.D.

      Affiliations

    • Haematology and Oncology Laboratory, IV Pediatric Department, G. Gaslini Children's Hospital, Genova, Italy
    • ,
  • Paolo Simi, Ph.D.

      Affiliations

    • Cytogenetics and Molecular Genetics Unit, Children's Department, A.O.U. Pisana, S. Chiara Hospital, Pisa, Italy
    • ,
  • Angelo Valetto, Ph.D.

      Affiliations

    • Cytogenetics and Molecular Genetics Unit, Children's Department, A.O.U. Pisana, S. Chiara Hospital, Pisa, Italy
    • Corresponding Author InformationReprint requests: Angelo Valetto, Ph.D., Cytogenetics and Molecular Genetics Unit, Childrens Department, A.O.U. Pisana, Ospedale S. Chiara, Via Roma 57, 56100 Pisa, Italy (FAX: +39-050-993498).

Received 4 December 2009 ,Revised 2 February 2010 ,Accepted 4 February 2010.

References 

  1. Toniolo D. X-linked premature failure: a complex disease. Curr Opin Genet Dev. 2006;16:293–300
  2. Therman E, Laxova R, Susman B. The critical region on the human Xq. Genetics. 1990;85:455–461
  3. Rizzolio F, Sala C, Alboresi S, Bione S, Gilli S, Goegan M, et al. Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum Genet. 2007;121:441–450
  4. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992;51:1229–1239
  5. Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet. 1998;62:533–541
  6. Prueitt RL, Chen H, Barnes RI, Zinn AR. Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Cytogenet Genome Res. 2002;97:32–38
  7. Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M, Mancini MC, et al. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Hum Reprod. 2004;19:2759–2766
  8. Van Bokhoven H, Schwartz M, Andréasson S, van den Hurk JA, Bogerd L, Jay M, et al. Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. Hum Mol Genet. 1994;3:1047–1051
  9. Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, et al. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. Ophthalmic Genet. 2000;21:185–189
  10. Speed RM. The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes. Hum Genet. 1988;78:260–266
  11. Rizzolio F, Bione S, Sala C, Goegan M, Gentile M, Gregato G, et al. Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum Reprod. 2006;21:1477–1483
  12. Jun L, Frints S, Duhamel H, Herold A, Abad-Rodrigues J, Dotti C, et al. NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation. Curr Biol. 2001;11:1381–1391
  13. Frints SGM, Jun L, Fryns JP, Devriendt K, Teulingkx R, Van den Berghe L, et al. Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. Am J Med Genet. 2003;119A:367–374

 V.B. has nothing to disclose. P.G. has nothing to disclose. M.P.B. has nothing to disclose. P.S. has nothing to disclose. A.V. has nothing to disclose.

PII: S0015-0282(10)00263-3

doi: 10.1016/j.fertnstert.2010.02.013

Fertility and Sterility
Volume 94, Issue 3 , Pages 1097.e5-1097.e8 , August 2010

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