Yaron Y, Feldman B, Kramer R L, Kasperski S B, Vo T, Feldman G L, Johnson M P, Evans M I, Ebrahim S A
Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan 48201, USA.
Am J Med Genet. 1999 May 7;84(1):12-4.
We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism.
我们报告了一例具有46,XY和46,XX细胞系且表现为正常男性表型的胎儿的产前诊断情况。细胞遗传学和分子学研究排除了母细胞污染的可能性,并表明两个胎儿细胞系中存在的所有X染色体均来自单一的母源X染色体。这提示存在46,XY/46,XX嵌合体。