Fertility and Sterility
Volume 92, Issue 1 , Pages 393.e5-393.e9 , July 2009

Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes

  • Carme Morales, Ph.D.

      Affiliations

    • Servei de Bioquímica i Genètica Molecular, Barcelona, Spain
    • CIBER de Enfermedades Raras, Barcelona, Spain
    • ,
  • Anna Soler, Ph.D.

      Affiliations

    • Servei de Bioquímica i Genètica Molecular, Barcelona, Spain
    • CIBER de Enfermedades Raras, Barcelona, Spain
    • Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
    • Corresponding Author InformationReprint requests: Anna Soler, Ph.D., Servei de Bioquímica i Genètica Molecular, Mejía Lequerica s/n, 08028 Barcelona, Spain (FAX: +34 93 227 56 68).
    • ,
  • Cèlia Badenas, Ph.D.

      Affiliations

    • Servei de Bioquímica i Genètica Molecular, Barcelona, Spain
    • CIBER de Enfermedades Raras, Barcelona, Spain
    • Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
    • ,
  • Laia Rodríguez-Revenga, Ph.D.

      Affiliations

    • CIBER de Enfermedades Raras, Barcelona, Spain
    • ,
  • Alfons Nadal, M.D., Ph.D.

      Affiliations

    • Servei d'Anatomia Patològica, Barcelona, Spain
    • ,
  • José M. Martínez, M.D., Ph.D.

      Affiliations

    • Servei de Medicina Materno-Fetal, Hospital Clínic, Barcelona, Spain
    • Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
    • ,
  • Irene Mademont-Soler, Ph.D.

      Affiliations

    • Servei de Bioquímica i Genètica Molecular, Barcelona, Spain
    • ,
  • Antoni Borrell, M.D., Ph.D.

      Affiliations

    • Servei de Medicina Materno-Fetal, Hospital Clínic, Barcelona, Spain
    • CIBER de Enfermedades Raras, Barcelona, Spain
    • Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
    • ,
  • Montserrat Milà, Ph.D.

      Affiliations

    • Servei de Bioquímica i Genètica Molecular, Barcelona, Spain
    • CIBER de Enfermedades Raras, Barcelona, Spain
    • Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
    • ,
  • Aurora Sánchez, M.D., Ph.D.

      Affiliations

    • Servei de Bioquímica i Genètica Molecular, Barcelona, Spain
    • CIBER de Enfermedades Raras, Barcelona, Spain
    • Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain

Received 27 January 2009 ,Revised 4 March 2009 ,Accepted 26 March 2009.

References 

  1. Grimshaw GM, Szczepura A, Hultén M, MacDonald F, Nevin NC, Sutton F, et al. Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Health Technol Assess. 2003;7:1–146
  2. Shaffer LG, Bui TH. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet. 2007;145:87–98
  3. Hasegawa T, Harada N, Ikeda K, Ishii T, Hokuto I, Kasai K, et al. Digynic triploid infant surviving for 46 days. Am J Med Genet. 1999;87:306–310
  4. Surti U, Hill LM, Dunn J, Prosen T, Hoffner L. Twin pregnancy with a chimeric androgenetic and biparental placenta in one twin displaying placental mesenchymal dysplasia phenotype. Prenat Diagn. 2005;25:1048–1056
  5. Kaiser-Rogers KA, McFadden DE, Livasy CA, Dansereau J, Jiang R, Knops JF, et al. Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia. J Med Genet. 2005;43:187–192
  6. Robinson WP, Lauzon JL, Innes AM, Lim K, Arsovska S, McFadden DE. Origin and outcome of pregnancies affected by androgenetic/biparental chimerism. Hum Reprod. 2007;22:1114–1122
  7. Pham T, Steele J, Stayboldt C, Chan L, Benirschke K. Placental mesenchymal dysplasia is associated with high rates of intrauterine growth restriction and fetal demise: a report of 11 new cases and a review of the literature. Am J Clin Pathol. 2006;126:67–78
  8. H'mida D, Gribaa M, Yacoubi T, Chaieb A, Adala L, Elghezal H, et al. Placental mesenchymal dysplasia with Beckwith-Wiedemann syndrome fetus in the context of biparental and androgenic cell lines. Placenta. 2008;29:454–460
  9. Chan YF, Sampson A. Placental mesenchymal dysplasia: a report of four cases with differentiation from partial hydatidiform mole. Aust N Z J Obstet Gynaecol. 2003;43:475–479
  10. McFadden DE, Jiang R, Langlois S, Robinson WP. Dispermy—origin of diandric triploidy: brief communication. Hum Reprod. 2002;17:3037–3038

 C.M. has nothing to disclose. A.S. has nothing to disclose. C.B. has nothing to disclose. L.R.-R. has nothing to disclose. A.N. has nothing to disclose. J.M. has nothing to disclose. I.M.-S. has nothing to disclose. A.B. has nothing to disclose. M.M. has nothing to disclose. A.S. has nothing to disclose.

 The first two authors contributed equally to this paper.

 Supported in part by grants PI07/0385 (IP. A.Sánchez) and PI05/0096 (IP. A.Soler) from Fondo de Investigaciones Sanitarias del Ministerio de Sanidad y Consumo, Spain.

PII: S0015-0282(09)00760-2

doi: 10.1016/j.fertnstert.2009.03.090

Fertility and Sterility
Volume 92, Issue 1 , Pages 393.e5-393.e9 , July 2009

Article Tools

* Image Usage & Resolution