Abstract
DiGeorge Sequence (DGS) is a multifactorial defect in development of the third and fourth branchial arches. 24 patients with DGS were ascertained prospectively between 1982-84 by presentation with specific cardiac defects, persistent hypocalce-mia, family history, or thymic aplasia at surgery or autopsy. Peripheral blood lymphocyte or skin fibroblast chromosome studies were done to determine the frequency of abnormalities, primarily monosomy 22q11. T cell function studies and parathyroid hormone levels were studied when possible.
Of the 24 cases, 21 were ascertained by their cardiac defect. Two presented with persistent hypocalcemia and seizures. One was detected only at post-mortem. Two cases were familial. One patient with retinoic acid teratogenicity syndrome had decreased T-cell function.
High resolution chromosome studies were done on 23 cases and were normal in 20. The three abnormal studies revealed monosomy 22q11, monosomy 18q, and monosomy 10p. The familial case with monosomy 22q11 was previously reported (Hum Genet 65:317, 1984). The other familial case in our series had normal chromosomes.
These findings are consistent with DGS as an etiologically and clinically heterogeneous condition with a chromosomal etiology in about 10% of cases. DGS should be suspected and evaluated in all patients with any third and fourth branchial arch defects.
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Greenberg, F., Ledbetter, D., Kirkland, J. et al. 1289 PROSPECTIVE CLINICAL AND CYTOGENETIC STUDY OF DiGEORGE SEQUENCE. Pediatr Res 19, 325 (1985). https://doi.org/10.1203/00006450-198504000-01313
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DOI: https://doi.org/10.1203/00006450-198504000-01313