Documents Dietrich Matern, MD, FACMG Biochemical Genetics Laboratory Mayo Clinic, Rochester, MN

SACHDNC Meeting January 26/27, 2012 Nomination and Prioritization Workgroup Report on 22q11.2 Deletion Syndrome (22q11.2DS; DiGeorge Syndrome, DGS-1) Dietrich Matern, MD,…

Documents DiGeorge Syndrome in a Newborn - A Diagnostic Challenge

*Corresponding author: Vasco Carvalho, Neonatal Intensive Care Unit, Depart- ment of Pediatrics, Hospital of Braga, Braga, Portugal, Tel: +351 967109619; E-mail: [email protected]

Documents Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl...

Case report Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However,