Familial 22q11.2 Deletion: Pregnancy Options and Management
- 23 Downloads
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.
KeywordsDiGeorge syndrome Prenatal diagnosis Prenatal BoBs
- 1.McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, et al. 22q11. 2 deletion syndrome. Nat Rev Dis Primers. 2015;1:150–71.Google Scholar
- 8.Grati FR, Vialard F, Gross S. BACs-on-beads™ (BoBs™) assay for the genetic evaluation of prenatal samples and products of conception. In: Narayanan K, editor. Bacterial artificial chromosomes. New York: Humana Press; 2015. p. 259–78.Google Scholar