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Familial 22q11.2 Deletion: Pregnancy Options and Management

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Journal of Fetal Medicine

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.

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Authors and Affiliations

  1. Institute of Reproductive Medicine and Women’s Health, The Madras Medical Mission, Chennai, 600037, India

    Swapna Yaramareddy & Lakshmi Shanmugasundaram

  2. Center for Genetics Studies and Research, The Madras Medical Mission, Chennai, 600037, India

    Bibhas Kar

Authors
  1. Swapna Yaramareddy
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  2. Lakshmi Shanmugasundaram
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  3. Bibhas Kar
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Correspondence to Bibhas Kar.

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Yaramareddy, S., Shanmugasundaram, L. & Kar, B. Familial 22q11.2 Deletion: Pregnancy Options and Management. J. Fetal Med. 5, 245–247 (2018). https://doi.org/10.1007/s40556-018-0189-8

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  • DOI: https://doi.org/10.1007/s40556-018-0189-8

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