Co-existent TBX1 Mutation and Chromosomal 20q13.13-q13.2 Duplication in an Infant with Abnormal TREC Newborn Screening

An eight day old male, term infant of a diabetic mother with patent ductus arteriosus was transferred from an outlying facility for surgical management of truncus arteriosus (TA), coarctation of the aorta, hypoplastic aortic arch, and anomalous origin of the right subclavian artery. The newborn also had absent thymic shadow on chest radiograph, hypocalcemia, and abnormal newborn screening (NBS) for severe combined immunodeficiency (SCID) measuring T cell receptor rearrangement circles (TRECs); threshold cycle (Ct) was 36.86 (Normal <36).

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