XX/XO MOSAICISM IN NINE PREADOLESCENT GIRLS

[摘要] Clinical and chromosomal studies are presented on nine preadolescent girls with XX/XO mosaicism, investigated because of short stature alone or in association with other complaints. Short stature was the sole reason for seeking medical advice in most of the cases and was the most important clue in making the diagnosis, since these patients do not have the "textbook picture" of Turner's syndrome. All nine patients were under the 3rd percentile for height. No lymphedema, web neck, or congenital heart disease was observed in the present series.The quantitative buccal smear for sex chromatin was found to be a useful preliminary screening test in indentifying these patients. The possibility of XX/XO mosaicism should be explored in all girls with unexplained short stature.

[学科分类] 儿科学