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Family Members with Congenital Heart Disease and Hypogammaglobulinemia

  • Irina A. Tuzankina
  • Mikhail A. Bolkov
  • Svetlana S. Deryabina
  • Elena V. Vlasova
Chapter

Abstract

DiGeorge syndrome is caused by a small deletion in chromosome 22

Multiplex PCR with oligonucleotide probe ligation is a gold standard method for diagnosis of DiGeorge syndrome

Leukopenia, low CD3+ cells count, low serum calcium, arterial trunk and ventricular septal defect, and hypoplasia of the thymus should direct toward a diagnosis of DiGeorge syndrome

Keywords

DiGeorge Multiplex PCR Leukopenia 

References

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Irina A. Tuzankina
    • 1
  • Mikhail A. Bolkov
    • 2
  • Svetlana S. Deryabina
    • 2
  • Elena V. Vlasova
    • 3
  1. 1.Institute of Immunology and Physiology UB RAS, Ural Federal University, Sverdlovsk Regional Children’s Hospital No. 1YekaterinburgRussia
  2. 2.Institute of Immunology and Physiology UB RAS, Ural Federal UniversityYekaterinburgRussia
  3. 3.Sverdlovsk Regional Children’s Hospital No. 1YekaterinburgRussia

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