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Klinefelter syndrome

Pronunciation: klin'fel-ter

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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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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