Fertility and Sterility
Volume 92, Issue 2 , Pages 828.e3-828.e6 , August 2009

Crypt Y chromosome fragment resulting from an X;Y translocation in a patient with premature ovarian failure

  • De-Hua Cheng, M.Sc.
    • ,
  • Yue-Qiu Tan, Ph.D.
    • ,
  • Yu-Fen Di, M.Sc.
    • ,
  • Lu-Yun Li, M.D.
    • ,
  • Guang-Xiu Lu, M.D.

      Affiliations

    • Corresponding Author InformationReprint requests: Guang-Xiu Lu, M.D., Institute of Reproduction and Stem Cell Engineering, Reproductive and Genetic Hospital of Citic Xiangya, Central South University, Changsha, 410078, P.R. China (FAX: 86-731-4497661).

Received 11 December 2007 ,Revised 17 May 2008 ,Accepted 9 July 2008.

References 

  1. Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol. 1986;67:604–606
  2. Davisen RM, Fox M, Conway GS. Mapping of the POF1 locus and identification of putative genes for premature ovarian failure. Mol Hum Reprod. 2000;6:314–318
  3. Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, et al. Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Genomics. 1997;40:123–131
  4. Tan YQ, Hu L, Lin G, Sham JST, Gong F, Guan XY, et al. Genetic changes in human fetuses from spontaneous abortion after in vitro fertilization detected by comparative genomic hybridization. Biol Reprod. 2004;70:495–499
  5. Delon B, Lallaoui H, Abel-Lablanche C, Geneix A, Bellec V, Benkhalifa M. Fluorescent in-situ hybridization and sequence-tagged sites for delineation of an X:Y translocation in a patient with secondary amenorrhoea. Mol Hum Reprod. 1997;3:439–443
  6. Krauss CM, Turksoy RN, Atkins L, McLaughlin C, Brown LG, Page DC. Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med. 1987;317:125–131
  7. Tharapel AT, Anderson KP, Simpson JL, Martens PR, Wilroy RS, Llerena JC, et al. Deletion (X) (q26.1→q28) in a proband and her mother: molecular characterization and phenotypic–karyotypic deductions. Am J Hum Genet. 1993;52:463–471
  8. Gibbons B, Tan SY, Yu CC, Cheah E, Tan HL. Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads. J Paediatr Child Health. 1999;35:210–213
  9. Page DC. Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development. 1987;101(Suppl.):151–155
  10. Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet. 1995;57:1400–1407
  11. Lau Y, Chou P, Iezzoni J, Alonzo J, Kömüves L. Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma. Cytogenet Cell Genet. 2000;91:160–164
  12. Gravholt CH, Fedder J, Naeraa RW, Muller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab. 2000;85:3199–3202
  13. Bianco B, Lipay MV, Melaragno MI, Guedes AD, Verreschi IT. Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma. J Pediatr Endocrinol Metab. 2006;19:1113–1117

 D.-H.C. has nothing to disclose. Y.-Q.T. has nothing to disclose. Y.-F.D. has nothing to disclose. L.-Y.L. has nothing to disclose. G.-X.L. has nothing to disclose.

 Supported by the Natural Science Foundation of Hunan Province of China (grant no. 2007FJ3068, Hunan Province) and the National Basic Research Program of China (grant no. 2007CB948103, Peking).

PII: S0015-0282(08)01465-9

doi: 10.1016/j.fertnstert.2008.07.014

Fertility and Sterility
Volume 92, Issue 2 , Pages 828.e3-828.e6 , August 2009

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