Reproductive BioMedicine Online
Volume 20, Issue 5 , Pages 660-663 , May 2010

Skewed X inactivation and IVF-conceived infants

  • Jennifer L. King

      Affiliations

    • University of Virginia, Charlottsville, VA 22908, USA
    • ,
  • Baoli Yang

      Affiliations

    • Department of Obstetrics and Gynecology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    • ,
  • Amy E.T. Sparks

      Affiliations

    • Department of Obstetrics and Gynecology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    • ,
  • Lindsay M. Mains

      Affiliations

    • Department of Obstetrics and Gynecology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    • ,
  • Jeffrey C. Murray

      Affiliations

    • Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    • ,
  • Bradley J. Van Voorhis

      Affiliations

    • Department of Obstetrics and Gynecology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    • Corresponding Author InformationCorresponding author.

Received 31 August 2009 ,Revised 18 September 2009 ,Accepted 17 December 2009.

References 

  1. Amos-Landgraf JM, Cottle A, Plenge RM, et al. X chromosome-inactivation patterns of 1005 phenotypically unaffected females. Am. J. Hum. Genet. 2006;79:493–499
  2. Badens C, Martini N, Courrier S, et al. ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. Am. J. Med. Genet. A. 2006;140A:2212–2215
  3. Beever CL, Stephenson MD, Peñaherrera S, et al. Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies. Am. J. Hum. Genet. 2003;72:399–401
  4. Cox GF, Burger J, Lip V, et al. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am. J. Hum. Genet. 2002;71:162–164
  5. DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith–Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am. J. Hum. Genet. 2003;72:156–160
  6. Gicquel C, Gaston V, Mandelbaum J, et al. In vitro fertilization may increase the risk of Beckwith–Wiedemann syndrome related to the abnormal imprinting of the KCNQ1OT gene. Am. J. Hum. Genet. 2003;72:1338–1341
  7. Hajkova P, Azim SM. Programming the X chromosome. Science [Perspective: Development]. 2004;303:633–664
  8. Halliday J, Oke K, Breheny S, et al. Beckwith–Wiedemann syndrome and IVF: a case-control study. Am. J. Hum. Genet. 2004;75:526–528
  9. Hansen M, Kurinczuk JJ, Bower C, et al. The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. N. Engl. J. Med. 2002;346:725–730
  10. Kimani JW, Shi M, Daack-Hirsch S, et al. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate. Am. J. Med. Genet. A. 2007;143A:3267–3272
  11. Krepischi AC, Kok F, Otto PG. X chromosome-inactivation patterns in patients with Rett syndrome. Hum. Genet. 1998;102:319–321
  12. Lau AW, Brown CJ, Penaherrera M, et al. Skewed X-chromosome inactivation is common in fetuses or newborns associated with continued placental mosaicism. Am. J. Hum. Genet. 1997;61:1353–1361
  13. Maher ER, Brueton LA, Bowden SC, et al. Beckwith–Wiedemann syndrome and assisted reproduction technology (ART). J. Med. Genet. 2003;40:62–64
  14. Merlob P, Sapir O, Sulkes J, et al. The prevalence of major congenital malformations during two periods of time, 1986–1994 and 1995–2002 in newborns conceived by assisted reproduction technology. Eur. J. Med. Genet. 2005;48:5–11
  15. Olson CK, Keppler-Noreuil KM, Romitti PA, et al. In vitro fertilization is associated with an increase in major birth defects. Fertil. Steril. 2005;84:1308–1315
  16. Ørstavik KH, Eiklid K, Van Der Hagen CB, et al. Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic sperm injection. Am. J. Hum. Genet. 2003;72:218–219
  17. Özbalkan Z, Bağişlar S, Kiraz S, et al. Skewed X chromosome inactivation in blood cells of women with scleroderma. Arthritis Rheumatol. 2005;52:1564–1570
  18. Plenge RM, Stevenson RA, Lubs HA, et al. Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am. J. Hum. Genet. 2002;71:168–173
  19. Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat. Rev. Genet. 2001;2:21–32
  20. Robinson W, Penaherrera M, Gair J, et al. X-Chromosome inactivation and telomere size in newborns resulting from intracytoplasmic sperm injection. Am. J. Med. Genet. 2005;137A:343–345
  21. Sato K, Uehara S, Hashiyada M, et al. Genetic significance of skewed X-chromosome inactivation in premature ovarian failure. Am. J. Med. Genet. 2004;130A:240–244
  22. Talebizadeh Z, Bittel DC, Veatch OJ, et al. Brief report: non-random X chromosome inactivation in females with autism. J. Autism Dev. Disord. 2005;35:675–681
  23. Thompson JR, Williams CJ. Genomic imprinting and assisted reproductive technology: Connections and potential risks. Semin. Reprod. Med. 2005;23:285–295

 Brad Van Voorhis, MD is the Division Director of the IVF Program at the University of Iowa Carver College of Medicine. He is a Professor in the Department and his research interests have included cost-effective infertility treatment, outcomes from IVF and single embryo transfer.

PII: S1472-6483(10)00047-7

doi: 10.1016/j.rbmo.2010.01.011

Reproductive BioMedicine Online
Volume 20, Issue 5 , Pages 660-663 , May 2010

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