Definition: a chromosomal anomaly with chromosome count 47, XXY sex chromosome constitution; buccal and other cells are usually sex chromatin positive; patients are male in development but have seminiferous tubule dysgenesis resulting in azospenmia and infertility, elevated plasma and urinary gonadotropins, variable gynecomastia, and eunuchoid habitus; some patients have chromosomal mosaic syndrome, with two or more cell lines of different chromosome constitution; the male tortoise-shell cat (calico cat) is an animal model.
Synonym(s): XXY syndrome
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