315
Views
7
CrossRef citations to date
0
Altmetric
CASE REPORT

Premature ovarian failure with 46,XX,t(1;4)(p34.1;q34): first case report and literature review

, &
Pages 656-658 | Received 10 Nov 2014, Accepted 22 Nov 2014, Published online: 04 Feb 2015

References

  • Nelson LM. Clinical practice. Primary ovarian insufficiency. N Engl J Med 2009;360:606–14
  • Cox L, Liu JH. Primary ovarian insufficiency: an update. Int J Womens Health 2014;6:235–43
  • Hens L, Devroey P, Van Waesberghe L, Bonduelle M, Van Steirteghem AC, Liebaers I. Chromosome studies and fertility treatment in women with ovarian failure. Clin Genet 1989;36:81–91
  • Tupler R, Barbierato L, Larizza D, Sampaolo P, Piovella F, Maraschio P. Balanced autosomal translocations and ovarian dysgenesis. Hum Genet 1994;94:171–6
  • Kawano Y, Narahara H, Matsui N, Miyakawa I. Premature ovarian failure associated with a Robertsonian translocation. Acta Obstet Gynecol Scand 1998;77:467–9
  • Burton KA, Van Ee CC, Purcell K, Winship I, Shelling AN. Autosomal translocation associated with premature ovarian failure. J Med Genet 2000;37:E2
  • Tullu MS, Arora P, Parmar RC, Muranjan MN, Bharucha BA. Ovarian dysgenesis with balanced autosomal translocation. J Postgrad Med 2001;47:113–15
  • Sills ES, Harmon KE, Tucker MJ. First reported convergence of premature ovarian failure and cutis marmorata telangiectatica congenita. Fertil Steril 2002;78:1314–16
  • Portnoi MF, Aboura A, Tachdjian G, et al. Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients. Hum Reprod 2006;21:2329–34
  • Ceylaner G, Altinkaya SO, Mollamahmutoglu L, Ceylaner S. Genetic abnormalities in Turkish women with premature ovarian failure. Int J Gynaecol Obstet 2010;110:122–4
  • Lakhal B, Braham R, Berguigua R, et al. Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients. Clin Genet 2010;78:181–5
  • Baronchelli S, Conconi D, Panzeri E, et al. Cytogenetics of premature ovarian failure: an investigation on 269 affected women. J Biomed Biotechnol 2011;2011:370195
  • Jiao X, Qin C, Li J, et al. Cytogenetic analysis of 531 Chinese women with premature ovarian failure. Hum Reprod 2012; 27:2201–7
  • Kalantari H, Madani T, Zari Moradi S, et al. Cytogenetic analysis of 179 Iranian women with premature ovarian failure. Gynecol Endocrinol 2013;29:588–91
  • Wood MA, Rajkovic A. Genomic markers of ovarian reserve. Semin Reprod Med 2013;31:399–415
  • Chromosome: 1 Map Location: 1p34: GenScript USA Inc.; 2014 [15 Sep 2014]. Available from: http://www.genscript.com/cgi-bin/orf/browse.pl?species = 9606&type = locus&chromosome = 1&locus = 1p34&page = 1
  • Chromosome: 4 Map Location: 4q34: GenScript USA Inc.; 2014 [15 Sep 2014]. Available from: http://www.genscript.com/cgi-bin/orf/browse.pl?species = 9606&type = locus&chromosome = 4&locus = 4q34
  • CASP3 caspase 3, apoptosis-related cysteine peptidase [Homo sapiens (human)]: HUGO gene nomenclature committee; 2014 [updated 11 Sep 2014]. Available from: http://www.ncbi.nlm.nih.gov/gene/836
  • Tiso N, Pallavicini A, Muraro T, et al. Chromosomal localization of the human genes, CPP32, Mch2, Mch3, and Ich-1, involved in cellular apoptosis. Biochem Biophys Res Commun 1996; 225:983–9
  • Choi Y, Ballow DJ, Xin Y, Rajkovic A. Lim homeobox gene, lhx8, is essential for mouse oocyte differentiation and survival. Biol Reprod 2008;79:442–9
  • Izawa M, Nguyen PH, Kim HH, Yeh J. Expression of the apoptosis-related genes, caspase-1, caspase-3, DNA fragmentation factor, and apoptotic protease activating factor-1, in human granulosa cells. Fertil Steril 1998;70:549–52
  • Matikainen T, Perez GI, Zheng TS, et al. Caspase-3 gene knockout defines cell lineage specificity for programmed cell death signaling in the ovary. Endocrinology 2001;142: 2468–80
  • McIlwain DR, Berger T, Mak TW. Caspase functions in cell death and disease. Cold Spring Harb Perspect Biol 2013;5:a008656
  • de Villiers TJ, Pines A, Panay N, et al. Updated 2013 International Menopause Society recommendations on menopausal hormone therapy and preventive strategies for midlife health. Climacteric 2013;16:316–37

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.