Article
Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications.
Molecular genetics & genomic medicine - 1 Dec 2021
Howell Susan, Buchanan Catherine, Davis Shanlee M, Miyazawa Heather, Furuta Glenn T, Tartaglia Nicole R, Nguyen Nathalie
Abstract excerpt
BACKGROUND: Supernumerary sex chromosome aneuploidies (SCA) are common genetic conditions characterized by additional X or Y chromosome, affecting ~1/500 individuals, with the most frequent karyotypes of 47,XXY (Klinefelter syndrome), 47,XXX (Trisomy X), and 47,XYY (Jacob syndrome). Although there is considerable phenotypic variation among these diagnoses, these conditions are characterized by the presence of...
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