Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote.
OBJECTIVE
It is generally believed that monochorionic-diamniotic twin pregnancies result from one fertilized oocyte with both siblings having the same genotype and phenotype. In rare instances, due to somatic mutations or chromosome aberrations, the karyotypes and phenotypes of the two twins can differ.


METHODS
We report cytogenetic, molecular genetic and clinical examinations in monochorionic-diamniotic twins discordant in gender.


RESULTS
The monochorionic-diamniotic status of the twins was diagnosed by ultrasound and histologic examination of the placenta. Prenatal chromosome examination performed on amniocytes revealed a normal female karyotype in one and a 46,XX(26)/46,XY(3) karyotype in the other twin. Molecular examinations confirmed monozygosity despite discordant sex. Based on the cytogenetic and molecular results of lymphocytes and placental cells, the only explanation for gender discordance was that the conceptus originally had a 47,XXY chromosome complement.


CONCLUSIONS
A 47,XXY zygote appears to have undergone a twinning process. A postzygotic loss of the X chromosome in some cells and the Y chromosome in other cells, either before or after twinning, resulted in 46,XX/46,XY mosaicism in both monozygotic (MZ) twins. The sex discordance of the MZ twins can be explained by different proportions of the 46,XX and 46,XY cell lines in the gonads and other tissues.
Zech
Nicolas H
NH
Division of Obstetrics, Department of Obstetrics and Gynaecology, University Hospital Zurich, Zurich, Switzerland.
Wisser
Josef
J
Natalucci
Giancarlo
G
Riegel
Mariluce
M
Baumer
Alessandra
A
Schinzel
Albert
A
D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D011247:Pregnancy; D012730:Sex Chromosomes; D019849:Sex Determination Processes; D038522:Twinning, Monozygotic; D014430:Twins, Monozygotic / Q000235:genetics*; D015053:Zygote