Prenatal diagnosis of 46,XY/46,XX mosaicism: a case report.
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.
Yaron
Y
Y
Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan 48201, USA.
Feldman
B
B
Kramer
R L
RL
Kasperski
S B
SB
Vo
T
T
Feldman
G L
GL
Johnson
M P
MP
Evans
M I
MI
Ebrahim
S A
SA
D000483:Alleles; D001055:Apolipoproteins B / Q000235:genetics; D002678:Chimera / Q000235:genetics; D005333:Fetus / Q000378:metabolism; D006801:Humans; D008297:Male; D008540:Meiosis / Q000235:genetics; D018598:Minisatellite Repeats / Q000235:genetics; D008938:Mitosis / Q000235:genetics; D009030:Mosaicism / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D012727:Sex Characteristics; D012730:Sex Chromosomes / Q000235:genetics*
D001055:Apolipoproteins B