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Mosaicism - Symptom

Alternative Names

Chromosomal mosaicism; Gonadal mosaicism

Symptoms:

Symptoms vary from person to person and are very difficult to predict. When a person has both normal and abnormal cells, problems may not be as severe.

Signs and tests:

Mosaicism can be found through chromosome evaluation or microarray analysis. It is usually described as a percentage of the cells examined. Males normally have the chromosomes 46 XY and females normally have the chromosomes 46 XX.

Tests will likely need to be repeated to confirm the results, and to help determine the type and severity of the mosaicism.

Reviewed last on: 12/1/2010
Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Hall JG. Single-gene and chromosomal disorders. In: Goldman L, Ausiello D. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 39.

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