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Turner syndrome

Pronunciation: tur'ner

Definition: a syndrome with chromosome count 45 and only one X chromosome; buccal and other cells are usually sex chromatin-negative; anomalies include dwarfism, webbed neck, valgus of elbows, pigeon chest, infantile sexual development, and amenorrhea; the ovary has no primordial follicles and may be represented only by a fibrous streak; some affected people are chromosomal mosaic, with two or more cell lines of different chromosome constitution; seen in many animal species, in the meadow vole it is the normal female state.

Synonym(s): XO syndrome

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.