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DiGeorge Syndrome

  • Marina TarsitanoEmail author
  • Andrea Vitale
  • Francesco Tarsitano
Chapter

Abstract

DiGeorge syndrome (DGS), described in 1968 by the pediatric endocrinologist Angelo DiGeorge, is a genetic disorder. The term “genomic disorders” refers to those diseases that are caused by chromosomal rearrangements involving large regions of one to several megabase pairs. The worldwide incidence is estimated at 1/2,000–1/4,000 live births. DGS is caused in over 90 % of cases by the deletion of a small piece of chromosome 22 and results in the poor development of several body systems, whose symptoms vary greatly between individuals but commonly include a primary immunodeficiency, often but not always, characterized by deficiency in cellular (T-cell)immunity, characteristic facies, congenital heart disease, and hypocalcemia.

Most features show variable expressivity and penetrance due to a genetic modifiers, chance association, or environmental interactions. Somatic mosaicism or postzygotic second hit have been hypothesized as potential mechanisms underlying such phenotypic discordance.

Keywords

DiGeorge syndrome Genomic disorder Hypocalcemia Hypoparathyroidism 

Notes

Acknowledgments

We are grateful to the Dr. M. Chen who agreed for the publication of his array-CGH illustration in this chapter.

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Copyright information

© Springer-Verlag Italia 2015

Authors and Affiliations

  • Marina Tarsitano
    • 1
    Email author
  • Andrea Vitale
    • 2
  • Francesco Tarsitano
    • 3
  1. 1.Department of GeneticsBiochemical LaboratorySalernoItaly
  2. 2.Department for Exercise Science and ResearchParthenope UniversityNaplesItaly
  3. 3.Obstetrics and Gynecology DepartmentA.O.U. Federico IINapoliItaly

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