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Interpretive Handbook

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Test 86374 :
Known 45,X, Mosaicism Reflex Analysis, FISH

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Ullrich-Turner syndrome (UTS), also called Turner syndrome, is a genetic disorder associated with the apparent loss of a sex chromosome. Routine cytogenetic methods have identified 3 types of chromosomal abnormalities in UTS patients: loss of an entire X chromosome (45,X), structural X chromosome abnormalities, and mosaicism with an X or Y abnormality. In mosaicism, 2 or more populations of cells with different karyotypes are present (eg, 45,X/47,XXX).


The incidence of UTS is approximately 1/3,000 newborn girls. Many of these patients demonstrate the 45,X karyotype. About 30% to 50% are mosaic, with either a 45,X/46,XX karyotype or a structurally abnormal X chromosome. Fewer than 15% of patients with UTS appear to have mosaicism with a 46,XY cell population or a Y chromosome rearrangement.


Identifying the mosaic status of patients with UTS is of clinical importance because phenotypic expression and clinical management are dependent upon the karyotype result. Patients with a Y chromosome have a 15% to 25% increased risk of gonadoblastoma.

Useful For Suggests clinical disorders or settings where the test may be helpful

This test provides a sensitive method for identifying sex chromosome mosaicism (ie, low level detection)

Interpretation Provides information to assist in interpretation of the test results

An XX clone is confirmed when > or =1.0% cells display with 2 X chromosome signals. An XY clone is confirmed when > or =0.6% cells display a 1 X and 1 Y signal pattern.


Females with a 45,X/46,XX karyotype have no increased risk of gonadoblastoma and generally have a more moderate expression of Turner syndrome features than females with a nonmosaic 45,X karyotype. The presence of a Y chromosome confers increased risk of gonadoblastoma.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Failure to identify an XY signal pattern does not rule out the possibility of <0.6% Y chromosome mosaicism.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Canto P, Kofman-Alfaro S, Jiminez AL, et al: Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences. Cancer Genet Cytogenet 2004;150:70-72

2. Gravholt CH, Fedder J, Naeraa RW, Muller J: Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab 2000;85:3199-3202

3. Sybert VP, McCauley E: Turner syndrome. N Engl J Med 2004;351:1227-1238