Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 4 , Pages 441-442 , December 2008

Prenatal Diagnosis of Digeorge Syndrome

  • Ümit Göktolga

      Affiliations

    • Department of Obstetrics and Gynecology, and Genetics, Ankara, Turkey
    • ,
  • Kazim Gezginç

      Affiliations

    • Department of Obstetrics and Gynecology, and Genetics, Ankara, Turkey
    • Corresponding Author InformationCorrespondence to: Dr Kazim Gezginç, Department of Obstetrics and Gynecology, Gulhane Military Medical Academy, 06018 Etlik, Ankara, Turkey
    • ,
  • S. Temel Ceyhan

      Affiliations

    • Department of Obstetrics and Gynecology, and Genetics, Ankara, Turkey
    • ,
  • Ulaş Fidan

      Affiliations

    • Department of Obstetrics and Gynecology, and Genetics, Ankara, Turkey
    • ,
  • Ali Ergün

      Affiliations

    • Department of Obstetrics and Gynecology, and Genetics, Ankara, Turkey
    • ,
  • Muhterem Bahçe

      Affiliations

    • Department of Gulhane Military Medical Academy, Ankara, Turkey
    • ,
  • Iskender Başer

      Affiliations

    • Department of Obstetrics and Gynecology, and Genetics, Ankara, Turkey

,Accepted 26 May 2008.

References 

  1. Oh DC , Min JY , Lee MH , et al.   Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion . J Korean Med Sci . 2002;17:125–128
  2. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonaldMcGinn DM, Zackai EH, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis . J Med Genet . 1993;30:813–817
  3. Driscoll DA , Budarf ML , Emanuel BS . Antenatal diagnosis of DiGeorge syndrome . Lancet . 1991;338:1390–1391
  4. Motzkin B , Marion R , Goldberg R , Shprintzen R , Saenger P . Variable phenotypes in velocardiofacial syndrome with chromosomal deletion . J Pediatr . 1993;123:406–410
  5. Perez E , Sullivan KE . Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes) . Curr Opin Pediatr . 2002;14:678–683
  6. Yamagishi H , Srivastava D . Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome . Trends Mol Med . 2003;9:383–389
  7. Lim CK , Han MH , Jun JH , et al.   Clinical application of preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridization to balanced reciprocal or Robertsonian translocation carriers in human IVF-ET program . Korean J Obstet Gynecol . 2000;43:1147–1153
  8. Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, et al. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects . J Med Genet . 1993;30:807–812
  9. Maeda J , Yamagishi H , Matsuoka R , et al.   Frequent association of 22q11.2 deletion with tetralogy of Fallot . Am J Med Genet . 2000;92:269–272

PII: S1028-4559(09)60014-0

doi: 10.1016/S1028-4559(09)60014-0

Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 4 , Pages 441-442 , December 2008

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