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Journal of Fetal Medicine

, Volume 5, Issue 4, pp 245–247 | Cite as

Familial 22q11.2 Deletion: Pregnancy Options and Management

  • Swapna Yaramareddy
  • Lakshmi Shanmugasundaram
  • Bibhas Kar
Brief Communication
  • 7 Downloads

Abstract

DiGeorge syndrome (DGS) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons. This report describes a familial 22q11.2 deletion diagnosed during pregnancy using an emerging technology, Bacterial artificial chromosome on Beads (BoBs). We discuss the implications of prenatally detected DGS and future options to prevent the recurrence.

Keywords

DiGeorge syndrome Prenatal diagnosis Prenatal BoBs 

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Copyright information

© Society of Fetal Medicine 2018

Authors and Affiliations

  1. 1.Institute of Reproductive Medicine and Women’s HealthThe Madras Medical MissionChennaiIndia
  2. 2.Center for Genetics Studies and ResearchThe Madras Medical MissionChennaiIndia

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