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Clin Lab Med. 2011 Dec;31(4):463-79, vii. doi: 10.1016/j.cll.2011.08.013.

Sex chromosomes and sex chromosome abnormalities.

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  • 1Department of Genetics, Kaiser Permanente, San Jose Medical Center, San Jose, CA 95123, USA.


This article focuses on constitutional sex chromosome abnormalities detected by conventional cytogenetics and fluorescence in situ hybridization. The author discusses the two general classifications of abnormalities: numerical and structural. Also included are descriptions of unique aspects of X and Y chromosomes, technological advances in detection, and future perspectives.

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