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- W2021661523 abstract "THE CHROMOSOME 18q deletion (18q—) syndrome is a well-described clinical entity characterized by mental retardation, short stature, and a variety of developmental abnormalities.<sup>1,2</sup>The syndrome often includes selective IgA deficiency.<sup>3</sup>Although IgA deficiency has been associated with a wide range of autoimmune disorders,<sup>4,5</sup>only a few patients with 18q— and IgA deficiency have exhibited autoimmune phenomena.<sup>6</sup> We report a case of 18q— syndrome with IgA deficiency complicated by a polyglandular autoimmune disorder composed of pernicious anemia, hypothyroidism, and hypoparathyroidism. <h3>Report of a Case</h3> A 21-year-old woman experienced the sudden onset of pallor and fatigue and was hospitalized because of severe anemia. She was the product of a normal gestation and delivery, but her growth and development were strikingly slowed. At the age of 9 years, the diagnosis of 18q— syndrome was made, with the additional finding of a ring 18p chromosome. The IgA level was 8" @default.
- W2021661523 created "2016-06-24" @default.
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- W2021661523 date "1982-09-17" @default.
- W2021661523 modified "2023-09-25" @default.
- W2021661523 title "Pernicious Anemia, 18q Deletion Syndrome, and IgA Deficiency" @default.
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- W2021661523 doi "https://doi.org/10.1001/jama.1982.03330110055029" @default.
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