Journal article

Publication year: 1993

Pages: 597-600

Journal: Journal of Medical Genetics

Volume number: 30

Issue number: 7

ISSN: 0022-2593

Open access status: Green

DOI Link: https://doi.org/10.1136/jmg.30.7.597

Publisher: BMJ Publishing Group

Abstract: 
A case of 46,XX/69,XXX mixoploidy is described. The patient had a normal 46,XX diploid karyotype in lymphocytes but a triploid 69,XXX cell line in most of her fibroblasts. In order to learn more about the underlying mechanism resulting in mixoploidy, we studied short tandem repeat polymorphisms (STRPs) in lymphocyte DNA of the patient's parents and in both lymphocyte and fibroblast DNA of the proband. The findings showed maternal origin of the supernumerary chromosome complement and are best explained by second polar body incorporation into a blastomere.

Harvard Citation style: MULLER, U., WEBER, J., BERRY, P. and KUPKE, K. (1993) 2ND POLAR BODY INCORPORATION INTO A BLASTOMERE RESULTS IN 46,XX/69,XXX MIXOPLOIDY, Journal of Medical Genetics, 30(7), pp. 597-600. https://doi.org/10.1136/jmg.30.7.597

APA Citation style: MULLER, U., WEBER, J., BERRY, P., & KUPKE, K. (1993). 2ND POLAR BODY INCORPORATION INTO A BLASTOMERE RESULTS IN 46,XX/69,XXX MIXOPLOIDY. Journal of Medical Genetics. 30(7), 597-600. https://doi.org/10.1136/jmg.30.7.597