Anatomic Pathology: Pediatric and Placental Pathology

• In Di George’s syndrome(DGS), there is also a deficiency of parathyroid hormones that gives rise to hypocalcemia, often severe enough to cause tetany and seizures.

• Most of the anomalies in DGS involve cardiac anomalies, abnormal facies, thymic aplasia, cleft palate, and hypocalcemia/hypoparathyroidism (CATCH-22; the 22 is for the abnormal chromosome). Individual features vary widely, even among families.

• DGS includes velo-cardiofacial syndrome, Schprintzen syndrome, and conotruncal anomaly face syndrome among others.

• Prevalence is about 1 in 4,000.

• The genes that contribute to the phenotype have not yet been identified.

Gennery AR: Immunological aspects of 22q11.2 deletion syndrome. Cell Mol Life Sci 2012 Jan;69(1):17-27.

Halder A, Jain M, Chaudhary I, et al: Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size. Mol Cytogenet 2012 Mar 13;5(1):13.

Schmid M, Stary S, Blaicher W, et al: Prenatal genetic diagnosis using microarray analysis in fetuses with congenital heart defects. Prenat Diagn 2012 Apr;32(4):376-382.

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